Genetic Counseling: Clinical and Laboratory Approach Usha Dave, Dhanlaxmi Shetty
INDEX
Page numbers followed by b refer to box, f refer to figure, fc refer to flowchart, and t refer to table.
A
Aarskog-Scott syndrome 137
Abdomen 81, 91, 108
Aberrant right subclavian artery 309, 311, 336
Ablepharon-macrostomia 94
Abnormal maternal serum screening 299
Abortion
induced 453
spontaneous 456
Acanthosis nigricans 115
Achondrogenesis 115, 116, 303
Achondroplasia 83f, 105, 115, 119, 121, 303
Acidosis, metabolic 220, 221
Acylcarnitine profile 259
Addison disease 136
Adenine 5, 6, 17
Adeno-associated virus 437
Adenomatoid malformation, congenital pulmonary 290, 290f
Adenosine
deaminase 442
deficiency 437
triphosphate 255
Adenovirus 437
Adrenoleukodystrophy 232
X-linked 136, 195
Age-related macular degeneration 20, 439
Aggression 137
Air conduction audiometry 164
Albright hereditary osteodystrophy 12
Alexander disease 200
Allele 451
Alpers-Huttenlocher syndrome 258
Alpha-fetoprotein 299, 309
Alpha-thalassemia 91, 96, 105, 401
Alphavirus 437
Alport syndrome 172
Alzheimer's disease 436
Ambiguous genitalia 90, 119, 137, 297f
genetic counseling in 88, 94
American Academy of Neurology and Child Neurology Society Guidelines 151
American Academy of Pediatrics 154
American Association of Neuromuscular and Electrodiagnostic Medicine 187
American Association on Intellectual and Developmental Disabilities 131
American Board of Genetic Counseling 67
American College of Medical Genetics and Genomics 23, 42, 67, 156, 188, 413
American College of Obstetricians and Gynecologists 213
American Society for Human Genetics 42
American Society of Clinical Oncology 411, 413
Amino acid 224
disorders of 223
prevalence of 27
metabolism 15, 222
disorders of 225
Aminoacidopathy 198
Aminoaciduria 136
Amniocentesis 12, 99, 318, 319, 338, 401, 451
complications of 320
method of 320
technique 321f
Amniotic band
disruption 348f
syndrome 75
Amniotic fluid 156, 233t, 248
cells 251
Amplification refractory mutation system 241
Anal atresia 75
Androgen
biosynthesis defect 94
insensitivity
partial 94
syndromes 93
synthesis 94
Anemia, aplastic 420f
Anencephaly 451
Aneuploidy 9, 282t, 303, 451
first trimester screening profile of 302t
Angelman syndrome 12, 134, 135, 152
Angiotensin-converting enzyme inhibitors 210
Aniridia syndrome 91, 95
Anophthalmia 102
Anorectal atresia 291
Anterior abdominal wall defects 288
Anthropometry 78
Antibody screening 418
Anticardiolipin antibody 355, 361
Anti-Müllerian hormone 89, 93, 94
disorders of 94
Antinuclear antibodies 361
Antioxidant 261
Antiphospholipid
antibodies 355
syndrome 355
Antisense oligonucleotides 191
Anti-thrombin deficiency 356
Aorta, coarctation of 312
Aortic isthmus, stenosis of 102, 104
Apert syndrome 105107
Aplasia 94
Apnea 220
Arachnodactyly 126f
Arachnoid cysts 106
Argininemia 225
Argininosuccinic acidemia 225
Arnold Chiari malformation 101, 107
Aromatic L-amino acid decarboxylase deficiency 265, 267
Array comparative genomic hybridization 142, 153, 360
Arthrogryposis 101
Arylsulfatase A 303
Asphyxiating thoracic
dysplasia 116
dystrophy 119
Assisted reproduction technology 47, 55, 153, 223, 366, 368, 376, 377b, 387
counseling, psychosocial aspect of 56
Ataxia
hereditary 184
syndrome 208
telangiectasia 196
Atresia
choanae 77
duodenal 108
Atrial septal defect 102
Atrioventricular canal defect 75
Attention-deficit hyperactivity disorder 133, 150
Audiogram 165f
Audiometry 164
Auditory brain stem response testing 164
Auditory steady-state response testing 164
Australasian Society of Genetic Counselors 67
Autism 451
spectrum disorder 14, 133, 150
Autonomy 48
Autosomal dominant 23, 117, 172, 185, 200
inheritance 38f, 79f, 451
type 165
Autosomal recessive 27, 117, 172, 200
disorders 23
inheritance 24f, 37f, 79f, 249, 401, 451
type 165
Autosomal short tandem repeat profiling 428
Autosomes 451
Azoospermia factor 56
B
Barr bodies 11
Basal ganglia 197
Batten-Spielmeyer-Sjögren disease 238, 246
Becker muscular dystrophy 11, 183, 186, 188
Beckwith-Wiedemann syndrome 12, 105
Behavioral observation audiometry 164
Bent bones 91
Beta-human chorionic gonadotropin 299
Beta-hydroxylase deficiency 92
Beta-hydroxysteroid dehydrogenase type 2 deficiency 92
Beta-ketothiolase deficiency 225
Beta-propeller protein-associated neurodegeneration 195, 201
Beta-thalassemia 11, 25, 28, 397
X-linked 401
Bethlem myopathy 185
Beutler's method 228
Biochemical tests 143
Biopsy
tissue 227
twin 321f
Biopterin defects 225
Biotinidase deficiency 171, 223, 224
Bipolar disorder 20
Birth defects 75, 98, 346
causes of 98
congenital 73
pathogenesis of 76
Bladder, exstrophy of 349f
Bleeding 323
Blindness, causes of 175
Blood 259
disorders, screening for 25
gas, abnormal 220
Body stalk deformity 303
Bone
conduction audiometry 164
density, disorders of 117
disorders of 113
marrow aspiration 13
matrix, disorders of 117
Börjeson-Forssman-Lehmann syndrome 138
Bowel
echogenic 104
obstruction 291
Brachycephaly 104
Brachyolmia 116
Brain
evoked response auditory 173
iron accumulation 195, 201
magnetic resonance
imaging of 142, 197
spectroscopy of 197
Breast 20, 411
cancer 20, 411, 412f
pedigree analysis of 415f
syndrome, hereditary 55
development 96
Broad chest 312
Bulbar muscular atrophy 209
Bushy eyebrows 83f
C
Calf hypertrophy 185
Campomelic dysplasia 91, 109, 119
Canavan disease 31, 197, 200, 226
Cancer 438
genetic
counseling 48, 409, 412
services directory 67
hereditary 411, 411t, 413, 413f
high risk of 101
ovarian 20, 411
pancreatic 411
psychosocial aspect of 59
Capillary electrophoresis 398, 427
Carbohydrate
disorders 221
metabolism 15, 222
Cardiac abnormalities 311f, 313
Cardiac anomaly 100102, 104
Cardiac defect 75, 104, 303, 312
congenital 289
Cardiomyopathy 184
Cardiovascular system 81
Carnitine 261
acylcarnitine translocase deficiency 225
palmitoyl-CoA transferase deficiency 225
palmitoyltransferase 187
uptake defect 225
Carpenter syndrome 109, 137
Cartilage hair hypoplasia 119
Cataract 119, 136, 176
CATCH-22 syndrome 141f
Catecholamines 265
Cauliflower ear 119
Celiac disease 20
Cell
biology 64
nucleus 5
Central auditory processing disorder 165
Central nervous system 81, 106, 142, 195, 197t, 221, 347
Cerebellar
anomalies 91
atrophy 203f
cortex 203f
hypoplasia 104, 135, 137
Cerebellum 197
Cerebral
cortex 197
palsy 150, 151
Cerebrocostomandibular syndrome 351f
Cerebrospinal fluid 198
Charcot-Marie-Tooth disease 184
Chest deformity 83f
Chiasma 451
Chimeric antigen receptor therapy 442
Chimerism 91
Chlamydomonas reinhardtii 441
Chondrodysplasia 113115
punctata 113, 119
Chondroectodermal dysplasia 117
Chondroitin sulfate 240
Chordate tendinae 102
Choreoathetosis 265
Chorionic villus 248
biopsy 401, 451
sampling 12, 99, 173, 202, 281, 301, 317319, 332, 338
methods of 318
transabdominal 319f
transcervical 320f
Choroid plexus 303
cysts 102, 106
Chromatid 451
Chromatography 15
Chromosomal aberration correlation 106
Chromosomal abnormality 98, 100, 333, 369
detection of 9
prevalence of 333f
Chromosomal analysis 142
Chromosomal aneuploidy 336t, 372
Chromosomal anomalies 107
diagnosis of 306
Chromosomal defects 285, 308, 308t
screening for 309
Chromosomal disorder 34, 48, 98, 100, 134, 334, 336
Chromosomal inheritance 8
Chromosomal microarray 142, 292, 336, 341
analysis 14, 16
Chromosomal mutation 11
Chromosomal rearrangements 342
Chromosomal translocations 56
Chromosome 7, 451
inversion of 370
irregular number of 9
microarray 388
Chudley-Lowry syndrome 137
Cisterna magna, widening of 102
Citrullinemia 225
Cleft
lip 91, 101, 102, 104, 107
palate 91, 101, 102, 104, 107, 119
Clinodactyly 100
Cloacal exstrophy 94
Club feet 101, 102, 104
Cockayne syndrome 196
Codominance 39
Codon 452
Coenzyme Q10 261
Coffin-Lowry syndrome 137, 141f
Cognitive processing therapy 433
Collagen disorders 303
Colon cancer 411
Colonoscopy 452
Colorectal cancer, hereditary nonpolyposis 411
Colostomy 110f
Comparative genomic hybridization 9, 14, 152, 341
Complete androgen insensitivity 94, 96
Complete blood count 31, 146
Complex cardiac anomalies 102
Computed tomography 151
Congenital adrenal hyperplasia 91, 92, 143, 157, 224, 296, 297f
prevalence of 28
screening for 28
Congenital malformation 98, 378
Connective tissue
deformities 113
disorders of 113, 114, 118
Consanguinity 223, 279, 452
Contiguous gene syndrome 35
Conventional audiometry 165
Copper metabolism, disorders of 198
Cord insertion 323f
transamniotic approach of 322f
transplacental approach of 322f
Cordocentesis 318, 321, 322f, 338, 452
complications of 323
indications of 321
method of 322
Cornelia de Lange syndrome 107, 108, 141f, 349f
Corpus callosum, agenesis of 101, 102, 104, 306
Counseling 123, 125, 127
techniques 64
COVID 19
pandemic 305
RT PCR test 305
test 305
viruses 17
Cramps 184
Craniomicromelic syndrome 351, 351f
Craniosynostosis 91
Cranium, asymmetry of 104
Creatine deficiency syndrome 137
Crouzon syndrome 105
Crown-rump length 307f, 308
Cryptorchidism 102, 104, 111
Cutis laxa 118
Cystic fibrosis 11, 23, 26, 31, 105, 224, 371
mutations 380
screening for 26
transmembrane conductance regulator gene 371
Cystic hygroma 107, 312
colli 104
Cystic renal dysplasia 105
Cysts ovarian 110
Cytogenetic 369, 452
anomalies 372
microarray 153
tests 91
Cytomegalovirus 163, 439
Cytosine 5, 6, 17
Cytosolic proteins 235
D
Dark skin pigmentation 91
De novo mutation 125f
Deafness 8, 164
dystonia-optic neuronopathy syndrome 172
Deformation 98, 99, 347
Dementia 136
Dentate nuclei 203f
Dentatorubral-pallidoluysian atrophy 199, 201, 209, 213
Dentinogenesis imperfecta 117
Denys-Drash syndrome 95
Deoxyribonucleic acid 3, 5, 61, 198, 205, 255, 280, 388, 411, 413f, 452
amplification 427
extraction 427
molecular 318
quantification 427
sequencing 17
Dermatan sulfate 240
Desulfurococcus mobilis 441
Developmental delay disorder 14, 154, 265
Diabetes mellitus 8, 106, 357
Diagnostic fetal chromosomal analysis 99
Diffuse cerebral atrophy 203f
DiGeorge syndrome 81
Dihydropteridine reductase 265
deficiency 266, 269
Dihydropyrimidinase deficiency 226
Dihydrotestosterone 89
Diploid 452
Disruption 75, 98, 99, 348
Dopamine beta-hydroxylase deficiency 270
Dopa-responsive dystonia 267
Double-stranded nucleic acid sequence 16
Down syndrome 12, 14, 75, 83f-85f, 102, 104106, 141f, 142, 143, 151, 152, 155, 156, 158, 159f, 299, 336
diagnosis of 84f
Dual energy X-ray absorptiometry 119
Dual marker test 330
Duchenne muscular dystrophy 26, 59, 183, 186188, 440
diagnosis of 448
screening for 26
treatment of 189
Ductus venosus 308
Dysautonomia, familial 31
Dysgenesis 142
ovarian 312
Dyskinesia 265
Dysmorphic fetus, genetic counseling in 346
Dysmorphism 78f
genetic counseling in 73
Dysmorphology 75, 77, 78t, 81f
Dysplasia 75, 98, 99, 137, 348
ears 102
fiastrophic 116, 119
Dystonia 265
Dystrophin 26
Dystrophy, infantile neuroaxonal 195
E
Eagle Barrett syndrome 111
Ear
abnormalities 77
anatomy of 100, 163f
physiology of 163f
Echogenic intracardiac foci 102
Edward syndrome 102, 156
Ehlers-Danlos syndrome 118
Elamipretide 261
Electroencephalogram 139, 151, 152
Electromyography 186, 210, 260
Electroretinogram 178
Ellis van Creveld syndrome 119, 117
Encephalocele 110
Encephalomyopathy
mitochondrial 8, 40
neurogastrointestinal 258
Endocrine system 357
Enzyme
linked immunosorbent assay 224b, 228, 240
modifiers 235
replacement therapy 239
testing 240
Epicanthic folds 83f
Epigenetic factors 222
Epilepsy 133, 137, 138
Epistaxis 39
Epithelial sodium channel 69
Esophageal atresia 108
Ethylene-diamine tetra-acetic acid 426
Eugenics 452
European Society for Paediatric Endocrinology 89
European Society of Human Genetics 384
Exclusion test 452
Exomphalos 284, 303
Exon 452
Extremity 101
shortening of 102
Eye 106
anatomy of 175f
movement desensitization 433
F
Fabry disease 143, 236, 242
Face and neck 107
Facial
abnormalities 313
anomalies 136, 138
clefts 102, 107
dysmorphism 91
muscle 184
Failure to thrive 220
Fallot's tetralogy 289f
Familial cancer syndromes 411t
Fatigable muscle weakness 184
Fatty acid metabolism, disorders of 225, 225t
FBI's combined DNA index system 429
Feeding intolerance 220
Feingold syndrome 108
Female infertility 368, 372
genetic causes of 372
secondary cause of 372
Femur, shortening of 104
Fertility 56
Fetal
akinesia 303
alcohol syndrome 151
aneuploidy 294, 311
anomalies 306
autopsy 350
blood group, determination of 327
chromosomal aneuploidy, prenatal screening for 282
cord blood 156
death 308, 308t
deoxyribonucleic acid 326
echocardiography 99, 289f
gastrointestinal anomalies 291
genitourinary anomalies 291
loss 319
medicine foundation 307f
movement 185
neural tube defects 299
talipes equinovarus 75
testing 402
therapy 321
Fetus
autopsy of 297f
biochemical disease of 294
genetic disease of 294
karyotype of 295f
microarray of 296f
Fibrochondrogenesis 116
Filamin-related disorders 113
First trimester screening 283, 301, 302t
Flat facial profile 104
Flat hooked nose 104
Fludrocortisone 95
Fluorescence in situ hybridization 9, 13f, 14, 16, 83, 85, 91, 142, 154, 292, 326, 339, 372f, 388, 453
Forensic genetic testing, genetic counseling in 423
Fragile X
associated primary ovarian insufficiency 208
disease 211
full mutation status 373f
mutation molecular test, interpretation of 212t
syndrome 11, 25, 26, 133, 136, 141f, 150152, 155, 205, 207209, 211, 380
screening for 26
Friedreich's ataxia 184, 200, 208, 209, 211
Fructose-1,6-diphosphatase deficiency 226, 228
Fryns syndrome 108
Fukuyama congenital muscular dystrophy 135
G
Galactosemia 221, 223, 224, 226, 228, 238, 245
Gamete 453
Gamma-aminobutyric acid 265, 271
metabolism, disorders of 271
Gangliosidosis 195, 303
Gas chromatography 140, 143, 157, 198, 225t, 226, 228
Gastrointestinal tract 81
Gastroschisis 108, 109f, 134, 195, 236, 242
Gaucher's disease 28, 143
G-banding 453
Gene 453
polymorphisms 370
regulation 64
therapy 436, 438, 439, 443, 453
early history of 437
genetic counseling in 423
Genetic
analysis 99
association 359
basics of 1, 3
carrier screening 22
counseling 19, 29, 42, 52, 55, 61, 67, 71, 8487, 95, 111, 122, 145, 158, 168, 178, 192, 202, 213, 227, 230, 251, 262, 294, 304, 313, 317, 326, 332, 344, 360, 374, 384, 389, 395, 406, 413f, 417, 420, 433, 444
approach 219, 235, 255, 265, 355, 368, 387, 411
behavioral aspects of 55
board of 67
essential for 34
ethical issues in 48
non-directive 213
practice 51
principles and practice 42
profession 66
psychosocial aspects of 55
resources 67
services 62t, 67
training programs in 62, 63
types of 48
counselor 50, 51, 55, 57, 58, 61, 66, 453
credentials of 61
online directories of 67
qualities of 64
role of 29, 50
defects 10
diagnostic tests 12
disorder 10, 57
evaluation 198
eye diseases 175
history of 3
metabolic test 161t
penetrance 205
screening 280, 453
skeletal disorders, classification of 113, 120
syndromes 169t
developmental implications of 155
techniques 64
testing 91, 123, 153, 210, 260, 413
laboratory approach of 414
Genital
abnormalities 77
ambiguity, revised nomenclature for 89
anomalies 100, 101, 109
hypoplasia of 119
Genitalia 95
ambiguous 90, 119, 137, 297f
external 96
intersexual 109
Genitopatellar syndrome 91
Genitourinary tract 81
Genome sequencing 155
Genomic imprinting 12, 39
Germ-cell cancer 96
Giemsa stain 13
Glaucoma 176
Glioblastoma 411
Global developmental delay 132, 150, 151
Glucose-6-phosphate dehydrogenase deficiency 15, 143, 224
Glutamate acid decarboxylase 271
Glutaric
acidemia 225, 226, 228
aciduria 198
Glycerol kinase deficiency 137
Glycine 265
metabolism, disorders of 270
Glycogen
accumulation 187
storage diseases 185, 221, 237
Glycosylation, congenital disorders of 195, 198, 201
Golabi-Ito-Hall syndrome 138
Goldenhar syndrome 105
Gonadal cells 86
Gonadal development, disorders of 94
Gonadal dysgenesis 94, 96
partial 94
Gonadal intersex 90
Gonadal regression 94
Gonadectomy, prepubertal 96
Gonadotropin-releasing hormone 91
Gonads 90
development of 89
Gorlin syndrome 105
Graft versus host disease 442
Growth
derived factor 15 259
hormone deficiency 91
retardation 77
Guanine 5, 6, 17
triphosphate 266f
Guthrie's method 228
Guthrie's test 453
H
Haltia-Santavuori disease 238, 245
Hamel cerebropalatocardiac syndrome 138
Hammer toes 185
Haploid 453
Head and face 102, 104
Hearing 162
impairment 169, 170
loss 27, 143, 150, 151, 162164, 167, 169t, 172
conductive 165
congenital 27
mixed 165
nonsyndromic 28, 166
types of 165
Heart defects 77, 91
congenital 119, 284, 302
Hematopoietic stem cell transplantation 417, 442
Heme-oxygenase 1 deficiency 28
Hemoglobin 401
disorders 398
molecule, structure of 395
Hemoglobinopathy 31, 224, 395, 396, 399t, 400, 402, 403, 403t, 453
classification of 395
genetic counseling of 393, 405
prenatal diagnosis of 401
Hemorrhage, fetomaternal 323
Heparan sulfate 240
Hepatic dysfunction 226, 228
Hernia
congenital diaphragmatic 284, 290, 290f, 303
diaphragmatic 102, 103f, 104, 108
Herpesvirus 437
Heterodisomy 35
Heteroplasmy 258
Heterozygosity, loss of 35
Highly active antiretroviral treatment 439
High-performance liquid chromatography 198, 224, 240
Holmes-Gang of gene syndrome 137
Holoprosencephaly 100102, 289
Homocystinuria 225
Homoplasmy 258
Homovanillic acid 265
Hormone
adrenocorticotropic 91
synthesis 96
Horn cell, anterior 183
Horseshoe kidney 104, 312
Human cell 4
based gene therapy methods 442
ultrastructure image of 4f
Human chorionic gonadotropin 302, 309
Human chromosome, structure of 7f
Human eye diseases 176t
Human Genetics Society of Australasia 67
Human Genome Organization, ethical, legal and social implications of 50
Human immunodeficiency virus 277
Human leukocyte antigen 387, 417, 417f, 420f
reports, interpretation of 419f
Hunter disease 138
Hunter syndrome 237, 243
Huntington's disease 11, 20, 55, 200, 205, 209
juvenile 211
Hurler syndrome 237, 243, 251
Hybridization 453
Hydramnios 102
Hydrocephalus 75, 101, 105107, 453
Hydrocortisone 95
Hydrolases 235
Hydronephrosis 101, 103f, 109
Hydrops, generalized 104
Hydrothorax, isolated 104
Hydroxyindoleacetic acid 265
Hydroxylase deficiency 90
Hydroxyphenyl lactate 147
Hydroxysteroid dehydrogenase deficiency 94
Hygroma colli 102, 107
Hyperammonemia 220
Hyperglycinemia 226, 228
Hypermethioninemia 225
Hyperoxaluria, primary 28
Hyperphenylalaninemia 225, 226, 267, 268
Hyperplasia, adrenal 297f
Hyperprolactinemia 357
Hypertelorism 100102, 104
Hypertension 95
pregnancy-induced 302
Hyperthyroidism 357
Hypochondrogenesis 115
Hypochondroplasia 115, 121
Hypoglycemia 220
Hypophosphatasia 114, 117
Hypopituitarism 91
Hypoplasia 104
Hypoplastic left heart 311f
Hypospadias 104
Hypothyroidism
congenital 143, 157, 224
subclinical 357
Hypotonia 136, 185
Hypotonic abdominal wall 111
I
Ichthyosis 119
Idebenone 261
Immune system 356
Imperforate anus 349f
Implantation failure, recurrent 355
Imprinting disorders 134
In vitro fertilization 25, 262, 355, 364, 376, 387, 395
Inborn errors of metabolism 15, 140, 198, 198t, 219, 220f, 228, 229
classification of 222, 222b
nomenclature of 222
Indian Council of Medical Research 49
Indian Genetic Disease Database 35
Infection 358
Infertility 368
counseling, psychosocial aspect of 56
female 368, 372
genetic counseling in 373
male 12, 368370
Integral lysosomal membrane proteins 235
Integrated test 285, 301
Intellectual developmental disorders 131
Intellectual disability 14, 31, 131, 132, 140fc, 144, 152fc
etiology of 133
types of 132t
International Bioethics Committee 50
Intestinal atresia 108
Intracytoplasmic sperm injection 364, 388
Intrauterine
deaths 302, 363
demise 351
growth restriction 146, 302, 306, 351, 356
insemination 364
therapy 304
Invasive diagnostic procedures 303
Ion transporters 235
Iris coloboma 104
Isovaleric acidemia 225, 226, 228
J
Jacobsen syndrome 100
Jansky-Bielschowsky disease 238, 246
Jarcho Levin syndrome 108
Jervell and Lange-Nielsen syndrome 171
Joint contractures 75
Joubert syndrome 107
Juberg-Marsidi syndrome 137
K
Kabuki syndrome 85, 86f
Kallmann syndrome 91, 371
Karyotype 8, 292, 341, 454
Kearns-Sayre syndrome 8, 40, 257, 259
Kennedy's disease 209
Keratan sulfate 240
Ketoaciduria 221
Ketothiolase deficiency 226, 228
Kidney
cancer 411
echogenic 105
Klinefelter syndrome 10, 56, 142, 369
Kniest dysplasia 115
Krabbe disease 195, 227, 237, 243, 251
L
Labor infection, premature 323
Lactate dehydrogenase 186
Lactic acidosis 8, 40
Larsen syndrome 119
Lawson Wilkins Pediatric Endocrine Society 89
Leber's hereditary optic neuropathy 8, 257, 258
Leigh syndrome 8, 134, 195, 257
maternally inherited 40
Lentivirus 437
Lenz microphthalmia 138
Lesch-Nyhan syndrome 133, 138
Lethal acrodysgenital dysplasia 94
Lethal anomalies 98
Lethal skeletal dysplasia 123
Lethargy 221
Leukemia
acute
lymphoblastic 14, 442
myeloid 411
chronic myeloid 13f, 17
Leukodystrophy 184
megalencephalic 28
metachromatic 195, 222, 227, 236, 243
Leydig cell hypoplasia 94
Liddle syndrome 69
Limb
abnormalities 75
girdle muscular dystrophies 185
Lipid metabolism 222
Liquid chromatogaphy 224, 240
Lissencephaly 75, 135
Liver function tests 259
Loeys-Dietz syndrome 118
Long-chain l-3-oh acyl-CoA dehydrogenase deficiency 225
Low fetal fraction 329
Lowe syndrome 136
Lumbosacral meningomyelocele 289f
Lung
cancer 411
malformations, congenital 290
Lupus anticoagulant 355, 361
Luteal phase deficiency 357, 358
Luteinizing hormone 93f
receptor defects 94
Lysosomal enzymes 235
Lysosomal storage
diseases 236t
disorder 134, 195, 198, 201, 221, 235, 239f, 240, 247fc
molecular genetic of 242t
support society 251
M
Macrocephaly 125f, 137
Magnetic resonance imaging 151, 152, 271
Malar hypoplasia 126f
Male infertility 12, 368370
secondary cause of 371
Malformation 75, 98, 347
Malonic acidemia 225
Maple syrup urine disease 157, 198, 201, 221, 225, 226, 228
Marfan syndrome 118, 127, 176
Mass spectrometry 15, 140, 143, 157, 198, 226, 228, 240
analysis 225t
Mass spectroscopy 15
Maternal cell contamination 191, 342
Maternal serum
alpha-fetoprotein 284
screening 454
Maternal transmissible infectious disease 294
Matthew-Wood syndrome 108
Mayer-Rokitansky-Küster-Hauser syndrome, 56
McKusick-Kaufman syndrome 110
Mean arterial pressure 302
Measles 163
Meckel-Gruber syndrome 105, 110
Medium-chain 3-ketoacyl-CoA thiolase deficiency 225
Medium-chain acyl-CoA dehydrogenase deficiency 225
Medium-chain l-3-OH acyl-CoA dehydrogenase deficiency 225
Meiosis 7, 454
Membrane proteins, lysosomal associated 247
Mendelian disorder 134, 454
Mendelian inheritance patterns 140, 255
Meningomyelocele 75, 77f, 347f
Menkes syndrome 138
Mental retardation 9496, 131, 135
syndrome 91
Metabolic disorders 134
Metabolism, errors of 27
Metaphyseal dysplasias 113
Metatropic dysplasia 116
Methyl malonic acidemia 226, 228
Methylcrotonyl-CoA carboxylase deficiency 225
Methylenetetrahydrofolate reductase 107, 280, 356
Methylmalonic acidemia 32, 225, 230, 231f
Methyltetrahydrofolate 265
Microarray analysis techniques 18
Microcephaly 75, 91, 100, 102, 104, 135, 138
Microdeletion syndrome 85f, 454
Microgenia 104
Micrognathia 100, 102, 349f
Micropenis 91
Microphthalmia 102
Midface hypoplasia 119
Miller Dieker syndrome 106
Mineralization, abnormal 114
Miscarriage 319, 320
Mismatch repair gene 454
Mitochondria 8, 255
Mitochondrial biogenesis, augmentation of 261
Mitochondrial deoxyribonucleic acids 8, 23, 454
analysis 430
Mitochondrial depletion syndrome 8
Mitochondrial disease 8, 184
clinical spectrum of 256f
Mitochondrial disorder 48, 134, 195, 198, 222, 255, 257t, 259, 261t, 262
clinical presentation of 255
genetic classification of 256t
Mitochondrial inheritance 8, 40, 40f, 256, 258b
Mitochondrial mutation 166
Mitochondrial myopathy-encephalopathy-lactic acidosis-stroke like episodes syndrome 195, 201
Mitosis 454
Mohr-Tranebjaerg syndrome 172
Molecular
diagnostic techniques 427
genetic methods 15, 454
laboratory methods 428
medicine, history of 3
tests 91, 241
Monoamine 265
degradation, disorders of 269
metabolism, disorders of 265
neurotransmitters 265
oxidase deficiency 269
synthesis 266f
disorders of 266
Monosomy 329, 454
Mosaic down syndrome 10
Mosaicism 9, 91, 335, 454
Motor neuron 190
diseases 183
Mucolipidosis 238, 240, 245
Mucopolysaccharidoses 83f, 140, 237
Müllerian duct 89
syndrome, persistent 94
Müllerian structures 92
Multicystic renal dysplasia 110
Multifactorial disorder 48, 98, 222
late-onset 34
Multiple alleles 39
Multiple carboxylic deficiency 226, 228
Multiple endocrine neoplasia 411
Multiple epiphyseal dysplasia 113
Multiple gestation 329
prenatal screening in 286
Multiple joint dislocations 119
Multiple ligation probe assay 44
Multiple oral frenula 119
Multiple pterygium syndrome 108
Multiplex ligation dependent probe amplification 25, 83, 152, 154, 199, 241, 260, 293, 400
Muscle 184
biopsy 260
eye-brain disease 135
wasting 185
weakness 347
Muscular dystrophies 184, 185
Musculoskeletal system 118
Mutation 11, 454
Myalgia 185
Myasthenic syndromes, congenital 183, 184
Myelogenous leukemia 14
Myoclonic epilepsy with ragged red fibers syndrome 195
Myopathy
congenital 184, 348f
metabolic 185
Myopia 119, 176
Myotonia 185
Myotonic dystrophy 185, 187, 209, 210
N
N-acetyl aspartate 197
Nager syndrome 107
Naked-eye single tube red cell osmotic fragility test 398
Narrow external auditory canal 104
Nasal
bone 299, 308, 308f, 309
malformation 102
National Center for Biotechnology Information 208
National Comprehensive Cancer Network 413
National Health Mission 279
National Society of Genetic Counselors 30, 65, 67
Neonatal death 455
Neonatal intensive care unit 98, 154, 173, 291
Neoplasm, maternal 329
Nerve conduction studies 186, 198, 260
Neu-Laxova syndrome 77f
Neural tube defect 77, 77f, 101, 107, 277, 286, 455
Neurodegenerative disease 196, 196t
Neurodegenerative disorders 195, 200, 200t, 201
genetic counseling for 195
Neuroferritinopathy 200
Neurofibromatosis 12, 23, 135, 169
Neurological disorders, genetic counseling in 181
Neuromuscular disorders 183, 183t, 185, 186t, 187t
genetic counseling in 181, 183
Neuromuscular junction 183, 184
Neuronal apoptosis inhibitor protein 445f, 446f
Neuronal ceroid lipofuscinoses 195, 140
Neuropathy
ataxia-retinitis pigmentosa syndrome 195, 201
hereditary 184
Neurotransmitter disorders 265
Next-generation sequencing 16, 18, 23, 44, 66, 91, 153, 187, 199, 213, 225, 239, 360, 368, 388, 390, 414
Niemann-Pick disease 195, 222, 238, 240, 243, 245
Nijmegen breakage syndrome 196
Nitric oxide synthesis 261
Nonimmune hydrops 104
Noninvasive maternal plasma free fetal deoxyribonucleic acids 99
Noninvasive prenatal screening test 145, 301, 309, 329t, 330, 334, 336, 382, 390, 401
Nonsyndromic deafness genes 166f
Noonan syndrome 107
Nuchal edema 102, 307
Nuchal fold 300
Nuchal translucency 105, 284, 295f, 296f, 199, 302, 303, 307, 308t, 336
measurement of 284f
normal range of 307f, 308f
scan 306, 326
thickened 101
Nucleic acid-based testing 15
Numerical chromosome aberration 83
O
Obesity 20
Ocular motility assessment 178
Oculocutaneous albinism 28
Oculogyric crisis 265
Oligoasthenoteratozoospermia 380
severe 363, 364
Oligodontia 119
Oligohydramnios 75, 101, 102, 104, 311f
Oligonucleotides 418
Oligosaccharides 224
Omphalocele 101, 102, 104, 109, 288f, 349f
minor 101f
Ophthalmoplegia, chronic progressive external 257
Opitz syndrome 138
Opthalmoplegia 184
Optic neuropathies, inherited 176
Organic
acid metabolism, disorders of 225
acidemias 198
acids 224
Ornithine transcarbamylase deficiency 223, 228
Oromandibular limb hypoplasia 319
Orthopedic diseases 443
Osteochondrodysplasias 114, 115, 115t, 116
Osteodysplasia 113, 114, 117
Osteogenesis imperfecta 75, 86f, 114, 117, 124, 125, 125f
Osteopetrosis 114, 117
Otopalatodigital syndrome 137
Otospondylomegaepiphyseal dysplasia 116
Ovarian failure, premature 373, 380
Ovarian insufficiency
premature 373
primary 372
Oxidative stress, modulation of 261
Oxidoreductase deficiency 92
P
Pallister-Killian syndrome 108, 109
Pantothenate kinase-associated neurodegeneration 28, 195
Parkinson's disease 20, 436
Parkinson's disorder 68
Partington syndrome X-linked lissencephaly 137
Patau syndrome 102, 142, 156
Pearson syndrome 257, 259
Pectus excavatum 126f
Pediatric genetic disorders 58
Pedigree 455
analysis 34, 35, 159f, 160f, 231f, 419
symbols 36f
chart 34, 37f-40f, 78, 252f, 337
Pelizaeus-Merzbacher syndrome 138
Pelvic
dilation 105
kidney 104
Pelviureteric junction 103f
Pena–Shokeir syndrome 102, 107
Pendred syndrome 170
Percutaneous umbilical blood sampling 202, 321
Peripheral blood lymphocyte culture 13
Perlman syndrome 105
Peroxisomal disorders 198
Phenotype 35
Phenylalanine 273
hydroxylase 269
Phenylhydroxy acetate 146
Phenylketonuria 27, 133, 157, 198, 201, 219, 225
Phytanic acid storage diseases 184
Pierre Robin syndrome 107
Pigment metabolism 222
Placental mosaicism 330, 342
Placentomegaly 101
Plasma 273
protein-A, pregnancy-associated 302
Pleiotropy 224
Polycystic kidney disease, infantile 105, 110
Polycystic ovarian syndrome 357
Polydactyly 102, 110, 116, 119
Polygenetic traits 39
Polygenic disorder 48
Polyhydramnios 185
Polymerase chain reaction 6, 16, 25, 91, 143, 199, 418, 426, 455
Polymorphism 455
Polyp 455
Polyploidy 9
Polypoidal choroidal vasculopathies 176
Polyposis, familial adenomatous 411
Pompe disease 143, 237, 244
Porphyrias 184
Positive maternal serum screening 335
Post-assisted reproduction technique counseling 383
Post-human chorionic gonadotropin 92
Postoperative pyeloplasty pelviureteric junction obstruction 103f
Post-test counseling 30, 302, 341, 419
Prader-Willi syndrome 12, 133, 134, 152
Pre-conception and pre-natal diagnostic techniques 387
Pregnancy
genetic counseling in 306
loss 323
recurrent 355, 359, 361f
medical termination of 301
prenatal screening in 281
twin 319
Preimplantation Genetic
diagnosis 25, 57, 145, 357, 382, 387
International Society 382
testing 280, 360, 361, 387, 389, 389f, 401
Prenatal chromosomal abnormalities 341
genetic counseling in 332
Prenatal diagnostic tests 248
Prenatal genetic
counseling 156
diagnosis, indications for 334
screening 360
testing 199
Pressure palsies 184
Pretest counseling 29, 317, 418
Professional Society of Genetic Counselors in Asia 67
Progressive pseudorheumatoid dysplasia 28
Propionic acidemia 32, 159, 225, 226, 228
Prostate cancer 411
Protein 6
metabolism 222
Proud syndrome 137
Prune belly syndrome 111
Pseudoachondroplasia group 113
Pseudohermaphrodite
female 90
male 90
Psoriasis 20
Pterin-carbinolamine dehydratase deficiency 266
Pterygium syndrome 107
Ptosis 104, 184, 185
Pure-tone audiometry 164
Pyknodysostosis 117
Pyramidal tract 197
Pyrimidines 6
Pyruvoyl-tetrahydrobiopterin 269
Pyruvoyl-tetrahydropterin synthase 265
deficiency 266, 269
Q
Quadruple marker test 330
Quantitative fluorescent polymerase chain reaction 292
Quantitative polymerase chain reaction 260
Quantitative urinary gag analysis 240
R
Radioimmunoassay methods 224b, 228
Real-time polymerase chain reaction 16
Reciprocal translocation 365f, 455
Refsum disease 171
Renal agenesis 91, 105
unilateral 104
Renal anomaly 75, 100, 102, 104, 313
Renal disease
degenerative 95
end-stage 172
progressive 136
Renal dysplasia, congenital 110
Renal malformations 101
Renal pelvic dilation of 101, 104, 105
Renpenning syndrome 138
Reproductive
age, cancer survivor of 60
genetics, counseling in 213, 353
Respiratory insufficiency 119, 185
Respiratory muscle 184
Respiratory system 81
Restriction fragment length polymorphism 6, 241, 455
Retinal detachment 119
Retinitis pigmentosa 172, 176
Retinoblastoma 411
Retrovirus 437
Rett syndrome 141f, 200
Reverse transcriptase-polymerase chain reaction 16
Rhabdomyolysis 185
Rh-isoimmunization 319, 323
Rhizomelic limb 124f
Ribonucleic acid 3, 6
Roberts syndrome 105, 107
Robertsonian translocation 335, 362f, 364f, 378, 456
Robin sequence U-shaped cleft palate 349f
Robinow syndrome 87f, 119, 141f
Rubella 163
Rubinstein Taybi syndrome 134, 135, 141f
S
Saccharomyces cerevisiae 441
Sacrococcygeal teratoma 110
Sandhoff disease 236, 242
Sanger sequencing 17, 199, 203, 241, 293, 380
Schimke immuno-osseous dysplasia 119
Schizophrenia 133
Sclerosis, amyotrophic lateral 183
Scoliosis 185
Scrotum, asymmetry of 91
Second trimester
genetic sonogram 284
screening 284
Seeing loss 136
Segawa disease 267
Seizure 220, 221
Semen analysis 369
Sensory neural hearing loss 165
Sepiapterin reductase deficiency 268
Sequential screening test 286
Serotonin 265
Severe combined immune deficiency 436
Sex
chromosomal
disorders 142
mosaicism 342
chromosome related disorders 327
development
classification of disorders of 93f
disorders of 8890, 94b
revised nomenclature of disorders of 90t
differentiation 89
limiting inheritance 39, 40f
linked dominant inheritance 38, 38f, 39f
Short femur 104, 105
Short limbs 312
Short rib
dysplasia 116
polydactyly syndrome 116, 119
Short stature 136, 138
Short tandem repeats 340, 427, 428, 428f
Short-chain acyl-CoA dehydrogenase deficiency 225
Short-chain L-3-OH acyl-CoA dehydrogenase deficiency 225
Shprintzen syndrome 109
Sialic acid storage disease 245
Sialidosis 244
Sickle cell 224
anemia 11
disease 25, 443
hemoglobin 397
Siderius-Hamel cleft
lip syndrome 138
palate syndrome 138
Silver-Russell syndrome 12
Simian crease 83f
Single chain antibody fragment 443
Single embryo transfer 387
Single gene disorder 48, 77, 83, 98
Single mutant genes 98
Single nucleotide
polymorphism 14, 142, 154, 428, 431, 456
microarray analysis 15
variants 247
Single umbilical artery 102, 106
Single-gene disorders 334
Skeletal
abnormalities 185
genetic counseling in 113
dysplasia 113, 114, 120t, 121, 122, 292
malformations 101
Skeleton, disorders of 113
Small cerebellum 311f
Smith-Fineman-Myers syndrome 137
Smith-Lemli-Opitz syndrome 91, 95, 102, 107, 109
Smith-Magenis syndrome 133
Snellen test 177
Snyder-Robinson syndrome 137
Sodium chloride 95
Soft markers 100
Southern blot test 260
Spasms, infantile 137
Spastic
paraparesis 265
paraplegia 137
Spasticity 138
Spectrophotometry 224b
Speech 162
genetic counseling in 162
Sperm 372f
aneuploidy 371
Sphingolipidoses 236
Spina bifida 456
aperta 107
Spinal defect 349f
Spinal dysraphism 105
Spinal muscular atrophy 25, 31, 183, 187, 190, 384, 439
screening for 25
Spinocerebellar
ataxia 11, 184, 200, 208, 209
tracts 197
Spinomuscular atrophy 303
Spondyloepimetaphyseal dysplasia 113, 115
Spondyloepiphyseal dysplasia 115
Squint 104
Stargardt's disease 176
Stenosis 108
duodenal 104
Steroidogenic acute regulatory protein mutations 94
Stickler dysplasia 116
Stickler syndrome 119, 170
Stomach cancer 411
Stress inoculation training 433
Stroke
like episodes 8
metabolic 260
Structural chromosome aberration 83
Structural modification of chromosome 9
Succinic semialdehyde dehydrogenase deficiency 271
Sulfatides 224
Sulfation disorders 113, 116
Sutherland-Haan syndrome 138
Swyer syndrome 94
Syndactyly 91, 102
Syndromic hearing loss 166, 172
Syndromic X-linked intellectual disability 136t
T
Tachypnea 220, 221
Tandem mass spectrometry 32, 140, 143, 224, 225t, 228
Tay-Sachs disease 27, 28, 31, 235, 236, 242
screening for 27
Teratogen 98, 456
Test-tube baby procedure 389
Tetrahydrobiopterin 265
Thalassemia 25, 395, 443
genetic basis of 396
Thanatophoric dysplasia 115
Thiamine 261
Thin-layer chromatography 198
Thorax 107
Thrombophilia, inherited 356
Thymidine kinase 438
Thymine 5, 17
Thyroid 138
carcinoma, familial 411
peroxidase antibodies 357
releasing hormone 357
stimulating hormone 357
Tonometry test 178
Tourette syndrome 150
Tracheoesophageal fistula 75
Transient fetal bradycardia 323
Transthyretin gene 440
Treacher-Collins syndrome 141f
Tricuspid regurgitation 308
Trifunctional protein deficiency 225
Trigonocephaly 100
Trinucleotide repeat expansions 205
Trio exome sequencing 293
Triple marker test 330
Triplet expansion disorders 207
Triploidy 100, 312, 336
Trisomy 10, 12, 101, 102, 105, 107, 109, 110, 142, 156, 312, 326, 329, 330t, 336, 456
True hermaphrodite 90
Truncal hypotonia 265
Tryptophan hydroxylase 266, 269
Tuberous sclerosis 45, 87f, 133, 141f
Tumor
necrosis factor alpha 357
suppressor gene 456
Turner's syndrome 11, 102, 104, 105, 155, 312, 372
Tyrosine hydroxylase 266
catalyzes 266
deficiency 266
Tyrosinemia 225, 226, 228
U
Ultrasonography 92, 98, 100, 281, 288f, 300
Ultrasound 99, 103f, 318
findings 100, 101, 102
findings, abnormal 336
guided image 319f, 321f, 323f
image twin gestation 321f
surgical defect 106
Uniparental disomy 15, 134, 142, 456
Uniparental isodisomy 35
Uracil 6
Urea cycle
defects 157, 198
disorder 221, 226, 228
Urethral valves 104, 110, 291f
Urinary bladder 318
Urinary tract obstruction 111, 291f
Urine
analysis 259
biopterin 273
glycosaminoglycans 240
myoglobinuria 186
neopterin 273
organic acids 259
Urogenital anomalies 102
Urogenital tract 109
Usher syndrome 170
Uterine
anatomical defects 56
factors 98
Uterocervical relation 318
Uveal melanoma 176
V
Vaccinia virus 437
Vacterl association 77f
Valproic acid 146
Van der Woude syndrome 107
Vanillactic acid 265
Vanilmandelic acid 265
Vascular disease 439
Vatiquinone 261
Velocardiofacial syndrome 14
Ventricles, dilation of 100
Ventricular septal defect 102, 311f, 313
Vertebral defects 75
Very long-chain
acyl-CoA dehydrogenase deficiency 225
fatty acids 198
Vineland Social Maturity Scale 139
Vision
impairment 150, 151
disorders 162
loss, causes of 175
Visual evoked potential 178
Visual field test 177
Visual impairment
diagnosis of 177
genetic counseling in 174
tests for 177
Vitamin B12 deficiency 134
Vomiting 220
W
Waardenburg syndrome 169
WAGR syndrome 91
Walker-Warburg syndrome 105, 134, 135
West syndrome 137
White matter neurodegenerative disease 196, 196t
Whole exome sequencing 44, 143, 187, 293
Whole genome sequencing 44, 143, 188, 293
Williams syndrome 135, 141f, 155
Williams-Beuren syndrome 155
Wilms tumor 95, 411
diagnosis of 91
Wilson disease 198, 200
Wolffian duct 89
Wolffian structures 93
Wolff-Parkinson-White syndrome 8
Wolf-Hirschhorn syndrome 101, 104, 108
Wormian bones 119
X
X chromosome
gain of 142
hydrocephalus 105
Xeroderma pigmentosum 196
X-linked
inheritance pattern 456
intellectual disability syndromes 136f
recessive
disorders 22, 201
inheritance 249
neuromuscular disorder 26
X-rays 142
Y
Y-chromosome
haplotype reference database 430
microdeletion 370
Z
Zellweger disease 195
Zellweger syndrome 67, 221
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