A
Acyl-CoA dehydrogenase deficiency 61
Acyltransferase 56
Adrenal hyperplasia, congenital 61
Adult T-cell leukemia 72
Agarose gel electrophoresis 100
Alpha-1 anti-trypsin deficiency 87
Alport syndrome 54
Ambiguous external genitals 27
Amenorrhea 24
Amino acid metabolism, disease of 61
Amniotic cavities 119
Amplified fragment length polymorphism 40
Andersen disease 61
Angelman syndrome 16
Antioncogene 69
Aorta, coarctation of 24
Apoptosis 70
Arylsulfatase B 62
Asthma 57
Athabascan brainstem dysgenesis syndrome 108
Autism 28
Autoimmune disorders 20
Azoospermia 25
B
Baldness 93
Barth syndrome 56
Becker's muscular dystrophy 56
Beta cells, development of 108
Biolistic particle delivery system 85
Blindness 56
Bort's test 77
Bosley-Salih-Alorainy syndrome 108
Bourneville-Pringle disease 51
Brachydactyly 108
Brain 92
Branched-chain-alpha-keto acid dehydrogenase 61
Breast cancer, hereditary 70
Bruton syndrome 56
Burkitt's lymphoma 72
C
Carbamoyl phosphate synthetase 1 deficiency 61
Carbohydrate metabolism, disorders of 61
Cat eye syndrome 21
Cataract 56
Celiac disease 116
Chorionic sacs 119
acrocentric 8
artificial 80
length of 12
morphology of 3
philadelphia 19
position of 12
shape of 12
structural classification of 8
submetacentric 8
telocentric 8
types of 9f
Cleft lip 57
Clinodactyly 23
Cloning, methods of 120
Codominant inheritance 57
Coloboma syndrome 108
Color blindness 56
Cordocentesis 78
Cori's disease 61
Coronary artery disease 87
Cranial malformation 108
Cubitus valgus 24
Cyclin-dependent kinase inhibitor 70
Cyclopia 27
Cytochrome B gene 58
D
Deafness 93
Deoxynucleoside triphosphates 99
Deoxyribose sugar 29
Depression 57
Dermal ridges, development of 64
Dichorionic diamniotic twins 119
DiGeorge syndrome 16
Distal interphalangeal creases 65
Distal palmar crease 65
Dystrophy, myotonic 51
E
Ectodermal dysplasia syndrome 108
Embryoblast 89
Epidermis 89
Epilepsy 57
Epithelia 92
Epstein-Barr virus 72
Erythroblastosis foetalis 112
Escherichia coli bacteria 104
Estrogen 25
Exocrine pancreas dysfunction 58
F
Facial hemangioma 6
Fanconi's anemia 87
Fatty acid oxidation, disorders of 61
Favism 61
Fetoscopy 78
Feulgen reaction 13
Flat feet 28
Focal dermal hypoplasia 54
Foetoscopy 74
Folic acid 20
Follicle-stimulating hormone 25
Forebrain development, failure of 27
Fragile leukemic cells 10
G
Galactose-1-phosphate uridyl transferase 62
Galton classification 66
Gene 34
bank 41
cluster of 115
complete set of 48
delivery 83
expression 37
mapping 39
uses of 40
multiple 111
polydactyly 59
disadvantages of 87
milestones of 81t
principles of 80
chemical methods of 86
methods of 83t
techniques 82
Genitalia 27
Gestational age, determination of 74
Giemsa stain 11
Glacial acetic acid 11
Glaucoma 57
Glioblastoma 70
Glucocerebrosidase 62
Glutaric aciduria 61
Glutaryl-CoA dehydrogenase 61
Goltz syndrome 54
Grafts, types of 114
Guanosine triphosphate 32
Guthrie test 63
Guttmacher syndrome 108
Gynecomastia 25
H
Hard-foot-genital syndrome 108
Hemochromatosis 52
Hemoglobin beta gene 52
Hermaphroditism 27
Hers disease 61
Hexosaminidase A deficiency 62
High-resolution banding technique 13
Hodgkin's lymphoma 72
Homeobox genes 107
Homocystinuria 61
Homogentisic acid oxidase 61
Homoploid 21
Horseshoe kidney 25
Human
genetics 1t
genome project 40
compilation of 1
HOX gene disorders 108t
leukocyte antigen 116t
complex 116
system 115
papilloma virus 72
T-lymphotropic virus 72
Hunter syndrome 62
Huntington chorea 51
Hurler syndrome 62
Hydroxylation 37
Hyperammonemia, cerebroatrophic 54
Hyperplasia, adrenal 27
Hypertension 57
Hyperuricemia 56
Hypogonadism 25
Hypomelia 6
Hypotonia 23
Hypotrichosis 6
I
Iduronate sulfatase 62
Indian National Gene Bank 41
Insemination, artificial 97
Intestine 89
Iris, heterochromia of 108
L
Langer-Giedion syndrome 16
Leber's hereditary optic neuropathy 58
Lecithin-sphingomyelin ratio 79t
Lejeune's syndrome 17
Leukocoria 56
Limb deformities 75
Lymphedema over limbs 24
Lymphocyte syndrome 116
Lymphoid cells 89
Lyon hypothesis 7
M
Macroglossia 22
Major histocompatibility complex 115
Mandibulofacial dysostosis 51
Maple syrup urine disease 61
Marie-tooth disease 108
Maroteaux-Lamy syndrome 62
McArdle disease 61
Mendelian disorders 48
Menkes disease 62
Metacentric chromosome 8
Methylation 7
Micrognathia 22
Microphthalmia 27
Miller-Dieker syndrome 16
Monosomy 21
Mosaicism 25
Motor neuron 1 gene, survival of 52
Mucopolysaccharides 62
Multigenic disorders 87
Multiple endocrine neoplasia 70
Muscular dystrophy 93
Myeloid leukemia, chronic 19
Myocardial infarction 93
Myogenesis 108
N
Neonatal heel prick 63
Neural tube defects 57
Neutral endopeptidase, phosphate-regulating 54
Neutrophil 7
Niemann-Pick disease 62
Norrie disease 56
Nuchal translucency 74
Nucleoside 29
Nucleotide excision repair 52
Nutritional deficiencies 20
Nystagmus, sensory 26
O
Okazaki fragments 41
Oligodontia 108
Optic nerve 108
Organic acid metabolism, disorders of 61
Oropharyngeal squamous cell carcinoma 70
Osteogenesis imperfecta 51
Osteoporosis 25
Osteosarcoma 70
Ovarian follicles 24
Ovary 78
Ovotesticular disorder 27
P
Pallister-Killian syndrome 21
Patchy white skin pigmentation 108
Pearson syndrome 58
Pentose sugar 29
Percutaneous umbilical blood sampling 78
Peroxisomal function, disorders of 62
Phosphate molecule 29
Phytohemagglutinin 10
Pleiotropy 58
Polycystic kidney disease 51
Polydactyly 26
Polyploid 21
Polyposis, familial adenomatous 70
Polysyndactyly syndrome 108
Pompe's disease 61
Porphobilinogen deaminase 61
Porphyria, acute intermittent 61
Prader-Willi syndrome 16
Primers set 99
Progesterone 25
Protein synthesis 1
Pseudogenes 39
Pseudohermaphroditism 27
Pseudouracil 31
Puberty, delayed 25
Pyloric stenosis 57
R
Radioulnar synostosis 108
Real-time polymerase chain reaction 101
Red blood cells 111
Retina 89
Retinal ganglionic cell degeneration 58
Retinoblastoma 70
Retrotransposed pseudogenes 39
Rett syndrome 54f
Reverse transcription polymerase chain reaction 102f
Robert syndrome 6
Rocker bottom feet 26
Rubinstein-Taybi syndrome 16
S
Schiff's reagent 13
Sclerosis, tuberous 51
Scoliosis 25
Sex chromatin, study of 10
Signal transduction genes 70
Single nucleotide polymorphism 40
Sjögren syndrome 116
Skeletal muscle 89
Sly syndrome 62
Smith-Magenis syndrome 16
Somatic gene therapy 82
Sonoporation gene therapy 85
Spina bifida 75
Spinal muscular dystrophy 52
classification of 89
plasticity of 92
pluripotent 92
sources of 89
therapy 88
applications of 92
types of 89
Strabismus 24
Stroke 92
Suwon crease 65
Syndactyly 108
Systemic lupus erythematosus 116
T
Tafazzin gene 56t
Tandem mass spectrometry 63
Tarui's disease 61
Taurodontic teeth 25
Teratoma cells 89
Testicular biopsy 25
Tetrasomy 21
Thalassemia 93
Thenar crease 65
Thrombocytopenia 108
Thyroid gland development 108
Traumatic brain injury 92
Treacher Collins syndrome 51
Triple X syndrome 21
Trophoblast cells, transcervical retrieval of 74
Trypsin 12
U
Ullrich-Turner syndrome 23
Urea cycle, disorders of 61
Urine strip test 79
Uveitis, acute anterior 116
V
Ventricular septal defects 24
Viral vectors, disadvantages of 85
Vitamin D resistant rickets 54
von Gierke's disease 61
W
Warkany syndrome 21
Warts 72
Watson and Crick model 30
William syndrome 16
Wilson disease 62
Wolf-Hirschhorn syndrome 16
Wound healing 93
Wrist creases 65