A
Aarskog-Scott syndrome 137
Ablepharon-macrostomia 94
Abnormal maternal serum screening 299
Acanthosis nigricans 115
Acylcarnitine profile 259
Addison disease 136
Adeno-associated virus 437
Adenovirus 437
Aggression 137
Air conduction audiometry 164
Albright hereditary osteodystrophy 12
Alexander disease 200
Allele 451
Alpers-Huttenlocher syndrome 258
Alphavirus 437
Alport syndrome 172
Alzheimer's disease 436
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 Obstetricians and Gynecologists 213
American Society for Human Genetics 42
Aminoacidopathy 198
Aminoaciduria 136
Amplification refractory mutation system 241
Anal atresia 75
Anemia, aplastic 420f
Anencephaly 451
Angiotensin-converting enzyme inhibitors 210
Anophthalmia 102
Anorectal atresia 291
Anterior abdominal wall defects 288
Anthropometry 78
Antibody screening 418
Antinuclear antibodies 361
Antioxidant 261
Antisense oligonucleotides 191
Anti-thrombin deficiency 356
Aorta, coarctation of 312
Aplasia 94
Apnea 220
Arachnodactyly 126f
Arachnoid cysts 106
Argininemia 225
Argininosuccinic acidemia 225
Arthrogryposis 101
Arylsulfatase A 303
counseling, psychosocial aspect of 56
Atrial septal defect 102
Atrioventricular canal defect 75
Audiogram 165f
Audiometry 164
Auditory brain stem response testing 164
Auditory steady-state response testing 164
Australasian Society of Genetic Counselors 67
Autonomy 48
Autosomal short tandem repeat profiling 428
Autosomes 451
Azoospermia factor 56
B
Barr bodies 11
Basal ganglia 197
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
Bethlem myopathy 185
Beutler's method 228
Biochemical tests 143
Biopterin defects 225
Bipolar disorder 20
Bladder, exstrophy of 349f
Bleeding 323
Blindness, causes of 175
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
Brachycephaly 104
Brachyolmia 116
Broad chest 312
Bulbar muscular atrophy 209
Bushy eyebrows 83f
C
Calf hypertrophy 185
Cardiomyopathy 184
Cardiovascular system 81
Carnitine 261
acylcarnitine translocase deficiency 225
palmitoyl-CoA transferase deficiency 225
palmitoyltransferase 187
uptake defect 225
Cartilage hair hypoplasia 119
CATCH-22 syndrome 141f
Catecholamines 265
Cauliflower ear 119
Celiac disease 20
Central auditory processing disorder 165
Cerebellum 197
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
Chondroectodermal dysplasia 117
Chondroitin sulfate 240
Chordate tendinae 102
Choreoathetosis 265
Chromatid 451
Chromatography 15
Chromosomal aberration correlation 106
Chromosomal analysis 142
Chromosomal inheritance 8
Chromosomal mutation 11
Chromosomal rearrangements 342
Chromosomal translocations 56
Chudley-Lowry syndrome 137
Cisterna magna, widening of 102
Citrullinemia 225
Clinodactyly 100
Cloacal exstrophy 94
Cockayne syndrome 196
Codominance 39
Codon 452
Coenzyme Q10 261
Cognitive processing therapy 433
Collagen disorders 303
Colon cancer 411
Colonoscopy 452
Colorectal cancer, hereditary nonpolyposis 411
Colostomy 110f
Complex cardiac anomalies 102
Computed tomography 151
Contiguous gene syndrome 35
Conventional audiometry 165
Copper metabolism, disorders of 198
Cramps 184
Craniosynostosis 91
Cranium, asymmetry of 104
Creatine deficiency syndrome 137
Crouzon syndrome 105
Cutis laxa 118
Cystic renal dysplasia 105
Cysts ovarian 110
Cytosolic proteins 235
D
Dark skin pigmentation 91
De novo mutation 125f
Dementia 136
Dentate nuclei 203f
Dentinogenesis imperfecta 117
Denys-Drash syndrome 95
Dermatan sulfate 240
Desulfurococcus mobilis 441
Diagnostic fetal chromosomal analysis 99
Diffuse cerebral atrophy 203f
DiGeorge syndrome 81
Dihydropyrimidinase deficiency 226
Dihydrotestosterone 89
Diploid 452
Dopamine beta-hydroxylase deficiency 270
Dopa-responsive dystonia 267
Double-stranded nucleic acid sequence 16
Down syndrome 12, 14, 75, 83f-85f, 102, 104–106, 141f, 142, 143, 151, 152, 155, 156, 158, 159f, 299, 336
diagnosis of 84f
Dual energy X-ray absorptiometry 119
Dual marker test 330
Ductus venosus 308
Dysautonomia, familial 31
Dyskinesia 265
Dysmorphic fetus, genetic counseling in 346
Dystonia 265
Dystrophin 26
Dystrophy, infantile neuroaxonal 195
E
Eagle Barrett syndrome 111
Echogenic intracardiac foci 102
Ehlers-Danlos syndrome 118
Elamipretide 261
Electroretinogram 178
Encephalocele 110
Endocrine system 357
Epicanthic folds 83f
Epigenetic factors 222
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
Exon 452
F
Face and neck 107
Failure to thrive 220
Fallot's tetralogy 289f
Familial cancer syndromes 411t
Fatigable muscle weakness 184
FBI's combined DNA index system 429
Feeding intolerance 220
Feingold syndrome 108
Femur, shortening of 104
Fertility 56
Fetal
akinesia 303
alcohol syndrome 151
anomalies 306
autopsy 350
blood group, determination of 327
chromosomal aneuploidy, prenatal screening for 282
cord blood 156
deoxyribonucleic acid 326
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
Flat facial profile 104
Flat hooked nose 104
Fludrocortisone 95
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
screening for 26
Fryns syndrome 108
Fukuyama congenital muscular dystrophy 135
G
Gamete 453
Gastrointestinal tract 81
G-banding 453
Genetic
analysis 99
association 359
carrier screening 22
counseling 19, 29, 42, 52, 55, 61, 67, 71, 84–87, 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
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
types of 48
credentials of 61
online directories of 67
qualities of 64
defects 10
diagnostic tests 12
evaluation 198
eye diseases 175
history of 3
metabolic test 161t
penetrance 205
syndromes 169t
developmental implications of 155
techniques 64
laboratory approach of 414
Genitopatellar syndrome 91
Genitourinary tract 81
Genome sequencing 155
Germ-cell cancer 96
Giemsa stain 13
Glaucoma 176
Glioblastoma 411
Glutamate acid decarboxylase 271
Glycerol kinase deficiency 137
Golabi-Ito-Hall syndrome 138
Goldenhar syndrome 105
Gonadal cells 86
Gonadal development, disorders of 94
Gonadal intersex 90
Gonadal regression 94
Gonadectomy, prepubertal 96
Gonadotropin-releasing hormone 91
Gorlin syndrome 105
Graft versus host disease 442
Guthrie's method 228
Guthrie's test 453
H
Hamel cerebropalatocardiac syndrome 138
Hammer toes 185
Haploid 453
Heme-oxygenase 1 deficiency 28
Hemorrhage, fetomaternal 323
Heparan sulfate 240
Herpesvirus 437
Heterodisomy 35
Heteroplasmy 258
Heterozygosity, loss of 35
Highly active antiretroviral treatment 439
Holmes-Gang of gene syndrome 137
Homocystinuria 225
Homoplasmy 258
Homovanillic acid 265
Horn cell, anterior 183
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
Hunter disease 138
Hybridization 453
Hydramnios 102
Hydrocortisone 95
Hydrolases 235
Hydrops, generalized 104
Hydrothorax, isolated 104
Hydroxyindoleacetic acid 265
Hydroxylase deficiency 90
Hydroxyphenyl lactate 147
Hydroxysteroid dehydrogenase deficiency 94
Hyperammonemia 220
Hypermethioninemia 225
Hyperoxaluria, primary 28
Hyperplasia, adrenal 297f
Hyperprolactinemia 357
Hyperthyroidism 357
Hypochondrogenesis 115
Hypoglycemia 220
Hypopituitarism 91
Hypoplasia 104
Hypoplastic left heart 311f
Hypospadias 104
Hypotonic abdominal wall 111
I
Ichthyosis 119
Idebenone 261
Immune system 356
Imperforate anus 349f
Implantation failure, recurrent 355
Imprinting disorders 134
nomenclature of 222
Indian Council of Medical Research 49
Indian Genetic Disease Database 35
Infection 358
Integral lysosomal membrane proteins 235
Intellectual developmental disorders 131
International Bioethics Committee 50
Intestinal atresia 108
Invasive diagnostic procedures 303
Ion transporters 235
Iris coloboma 104
J
Jacobsen syndrome 100
Jarcho Levin syndrome 108
Jervell and Lange-Nielsen syndrome 171
Joint contractures 75
Joubert syndrome 107
Juberg-Marsidi syndrome 137
L
Labor infection, premature 323
Lactate dehydrogenase 186
Larsen syndrome 119
Lawson Wilkins Pediatric Endocrine Society 89
Lentivirus 437
Lenz microphthalmia 138
Lethal acrodysgenital dysplasia 94
Lethal anomalies 98
Lethal skeletal dysplasia 123
Lethargy 221
Leydig cell hypoplasia 94
Liddle syndrome 69
Lipid metabolism 222
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
Lysosomal enzymes 235
M
Malar hypoplasia 126f
Malonic acidemia 225
Mass spectroscopy 15
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
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
Membrane proteins, lysosomal associated 247
Menkes syndrome 138
Metabolic disorders 134
Metabolism, errors of 27
Metaphyseal dysplasias 113
Metatropic dysplasia 116
Methylcrotonyl-CoA carboxylase deficiency 225
Methyltetrahydrofolate 265
Microarray analysis techniques 18
Microgenia 104
Micropenis 91
Microphthalmia 102
Midface hypoplasia 119
Miller Dieker syndrome 106
Mineralization, abnormal 114
Mismatch repair gene 454
Mitochondrial biogenesis, augmentation of 261
Mitochondrial depletion syndrome 8
Mitochondrial mutation 166
Mitosis 454
Mohr-Tranebjaerg syndrome 172
Monoamine 265
degradation, disorders of 269
metabolism, disorders of 265
neurotransmitters 265
oxidase deficiency 269
synthesis 266f
disorders of 266
Mosaic down syndrome 10
Müllerian structures 92
Multicystic renal dysplasia 110
Multiple alleles 39
Multiple endocrine neoplasia 411
Multiple epiphyseal dysplasia 113
Multiple joint dislocations 119
Multiple ligation probe assay 44
Multiple oral frenula 119
Multiple pterygium syndrome 108
Musculoskeletal system 118
Myalgia 185
Myelogenous leukemia 14
Myoclonic epilepsy with ragged red fibers syndrome 195
Myotonia 185
N
N-acetyl aspartate 197
Nager syndrome 107
Naked-eye single tube red cell osmotic fragility test 398
Narrow external auditory canal 104
National Center for Biotechnology Information 208
National Comprehensive Cancer Network 413
National Health Mission 279
Neonatal death 455
Neoplasm, maternal 329
Neu-Laxova syndrome 77f
Neuroferritinopathy 200
Neurological disorders, genetic counseling in 181
Neurotransmitter disorders 265
Nijmegen breakage syndrome 196
Nitric oxide synthesis 261
Nonimmune hydrops 104
Noninvasive maternal plasma free fetal deoxyribonucleic acids 99
Nonsyndromic deafness genes 166f
Noonan syndrome 107
Nuchal fold 300
Nucleic acid-based testing 15
Numerical chromosome aberration 83
O
Obesity 20
Ocular motility assessment 178
Oculocutaneous albinism 28
Oculogyric crisis 265
Oligodontia 119
Oligonucleotides 418
Oligosaccharides 224
Ophthalmoplegia, chronic progressive external 257
Opitz syndrome 138
Opthalmoplegia 184
Optic neuropathies, inherited 176
Oromandibular limb hypoplasia 319
Orthopedic diseases 443
Otopalatodigital syndrome 137
Otospondylomegaepiphyseal dysplasia 116
Oxidative stress, modulation of 261
Oxidoreductase deficiency 92
P
Parkinson's disorder 68
Partington syndrome X-linked lissencephaly 137
Pectus excavatum 126f
Pediatric genetic disorders 58
Pelizaeus-Merzbacher syndrome 138
Pelviureteric junction 103f
Pendred syndrome 170
Peripheral blood lymphocyte culture 13
Perlman syndrome 105
Peroxisomal disorders 198
Phenotype 35
Phenylhydroxy acetate 146
Phytanic acid storage diseases 184
Pierre Robin syndrome 107
Pigment metabolism 222
Placentomegaly 101
Pleiotropy 224
Polycystic ovarian syndrome 357
Polygenetic traits 39
Polygenic disorder 48
Polyhydramnios 185
Polymorphism 455
Polyp 455
Polyploidy 9
Polypoidal choroidal vasculopathies 176
Polyposis, familial adenomatous 411
Porphyrias 184
Positive maternal serum screening 335
Post-assisted reproduction technique counseling 383
Post-human chorionic gonadotropin 92
Postoperative pyeloplasty pelviureteric junction obstruction 103f
Pre-conception and pre-natal diagnostic techniques 387
Pregnancy
genetic counseling in 306
loss 323
medical termination of 301
prenatal screening in 281
twin 319
Preimplantation Genetic
International Society 382
Prenatal diagnostic tests 248
Pressure palsies 184
Professional Society of Genetic Counselors in Asia 67
Progressive pseudorheumatoid dysplasia 28
Prostate cancer 411
Proud syndrome 137
Prune belly syndrome 111
Pseudoachondroplasia group 113
Psoriasis 20
Pterin-carbinolamine dehydratase deficiency 266
Pterygium syndrome 107
Pure-tone audiometry 164
Pyknodysostosis 117
Pyramidal tract 197
Pyrimidines 6
Pyruvoyl-tetrahydrobiopterin 269
Q
Quadruple marker test 330
Quantitative fluorescent polymerase chain reaction 292
Quantitative polymerase chain reaction 260
Quantitative urinary gag analysis 240
R
Real-time polymerase chain reaction 16
Refsum disease 171
Renal dysplasia, congenital 110
Renal malformations 101
Renpenning syndrome 138
Respiratory muscle 184
Respiratory system 81
Retinal detachment 119
Retinoblastoma 411
Retrovirus 437
Reverse transcriptase-polymerase chain reaction 16
Rhabdomyolysis 185
Rhizomelic limb 124f
Robin sequence U-shaped cleft palate 349f
Rubella 163
S
Saccharomyces cerevisiae 441
Sacrococcygeal teratoma 110
Schimke immuno-osseous dysplasia 119
Schizophrenia 133
Sclerosis, amyotrophic lateral 183
Scoliosis 185
Scrotum, asymmetry of 91
Seeing loss 136
Segawa disease 267
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
revised nomenclature of disorders of 90t
differentiation 89
Short limbs 312
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
Silver-Russell syndrome 12
Simian crease 83f
Single chain antibody fragment 443
Single embryo transfer 387
Single mutant genes 98
Single-gene disorders 334
Skeleton, disorders of 113
Small cerebellum 311f
Smith-Fineman-Myers syndrome 137
Smith-Magenis syndrome 133
Snellen test 177
Snyder-Robinson syndrome 137
Sodium chloride 95
Soft markers 100
Southern blot test 260
Spasms, infantile 137
Spasticity 138
Spectrophotometry 224b
Sphingolipidoses 236
Spinal defect 349f
Spinal dysraphism 105
Spinomuscular atrophy 303
Spondyloepiphyseal dysplasia 115
Squint 104
Stargardt's disease 176
Steroidogenic acute regulatory protein mutations 94
Stickler dysplasia 116
Stomach cancer 411
Stress inoculation training 433
Structural chromosome aberration 83
Structural modification of chromosome 9
Succinic semialdehyde dehydrogenase deficiency 271
Sulfatides 224
Sutherland-Haan syndrome 138
Swyer syndrome 94
Syndromic X-linked intellectual disability 136t
T
Test-tube baby procedure 389
Tetrahydrobiopterin 265
Thanatophoric dysplasia 115
Thiamine 261
Thin-layer chromatography 198
Thorax 107
Thrombophilia, inherited 356
Thymidine kinase 438
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
True hermaphrodite 90
Truncal hypotonia 265
U
Uniparental isodisomy 35
Uracil 6
Urinary bladder 318
Urine
analysis 259
biopterin 273
glycosaminoglycans 240
myoglobinuria 186
neopterin 273
organic acids 259
Urogenital anomalies 102
Urogenital tract 109
Usher syndrome 170
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
Vertebral defects 75
Vineland Social Maturity Scale 139
Visual evoked potential 178
Visual field test 177
Vitamin B12 deficiency 134
Vomiting 220
W
Waardenburg syndrome 169
WAGR syndrome 91
West syndrome 137
Williams-Beuren syndrome 155
Wolffian duct 89
Wolffian structures 93
Wolff-Parkinson-White syndrome 8
Wormian bones 119