Файл: Genetics [BRS].pdf

Dominant genes, 82, 84, 210
Dominant genetic disorders, 28, 31, 47–48, 110,

127, 149, 156–157, 159–162, 174–176, 190

Double helix DNA, 16–20, 22
Down syndrome, 47, 97, 101, 106, 111, 115,

118–119, 121, 154, 161, 188, 205, 208–211,
221–224

increased probability of, 195–196

DS (see Deletion syndrome)
Duchenne muscular dystrophy (DMD), 33, 37, 39,

71, 81, 190, 192, 195, 203, 208, 211, 218, 224

Duplicated chromosomes, 86–87, 89–90
Duplication/deletion analysis, 189, 191–192
Duplications, large, 189, 191–192
Dwarfism, achondroplastic, 74, 81, 211, 215
Dynamic mutations, 45–46, 50

category of, 46–47

Dysplasia, short-limb, 156–157
Dystrophin, 33, 37, 71

ECM (see Extracellular matrix)
EGF (see Epidermal growth factor)
Ehlers-Danlos syndrome, 39, 165
Elastic fibers, 159–160
Embryo, 5, 9, 11, 101, 154, 160, 167, 214
Embryonic cells, 49
Encephalopathy, 56, 58, 126
Environmental

components, 63–64, 68–69, 218, 224
factors, 63, 68, 70, 162, 168–169, 201–202

Enzyme activity, carrier-level, 192
Enzymes, 21, 24–25, 53–54, 113, 123, 126, 138–139,

209, 220

Epidermal growth factor (EGF), 28, 182
Epigenetic control, 2, 5, 9, 11
Epistaxis, 106, 112, 149–150
Ethnic groups, 74, 195–196
Etiology, 66, 162
Euchromatin, 13–14, 17, 19, 95–96
Exonuclease, 23
Extracellular matrix (ECM), 33, 159–160, 163–164

FA (see Fanconi anemia)
Factor(s)

carrier risk, 129
fibroblast growth, 156, 159, 182
paracrine, 156, 159
reduced, 147–148, 150–151

Facultative heterochromatin, 14, 17
Familial adenomatous polyposis (FAP), 176, 181,

183, 195, 202, 215, 217, 227

Familial adenomatous polyposis coli (FAPC), 177,

182, 190–191

Familial Hypercholesterolemia (FH), 127, 136,

138–139

Family

genetic screening, 190
history, 27–28, 34, 40, 43, 66, 69, 118, 177, 187,

203, 208, 212–213, 220, 225, 227

members, 70, 78, 186, 191–192, 200, 209–210,

213, 219

pedigree, 34, 37, 46, 57, 59, 78, 216

Fanconi anemia (FA), 21, 24–25, 39, 109, 209
FAP (see Familial adenomatous polyposis)
FAPC (see Familial adenomatous polyposis coli)
Father

affected, 30, 32, 34, 38, 55, 59, 61
normal, 30, 32, 38, 55

normal homozygous, 26–27, 29, 38
unaffected advanced-age, 156–157, 161

Father-to-son transmission, 30, 32, 35, 37
Female

at-risk, 192
conceptions, 102
equal number of, 26, 28, 35, 37
gametogenesis, 5, 87
heterozygote carriers, 76–77

Fertilization, 49, 55, 88, 91–92, 101, 121, 153, 224
Fetal cells, 187–188, 190–193
Fetus, male, 209, 213, 219, 222, 225
FGF (see Fibroblast growth factor
FGFR-related craniosynostosis syndromes, 157
FGFRs (see Fibroblast growth factor receptors)
FH (see Familial hypercholesterolemia)
Fibroblast growth factor (FGF), 156–159, 163, 167,

182

Fibroblast growth factor receptors (FGFRs),

156–159, 163, 208

constitutive activation of, 156–157

First cousins, 42, 44, 65, 68–69, 73, 197–200, 222

mating of, 197, 199

Fluorochromes, 95
FRDA (see Friedreich ataxia)
Friedreich Ataxia (FRDA), 39, 47, 50–51
Fructose, 123–124, 132

Galactosemia, 39, 123, 132, 138, 188, 196, 203, 218
Gametes

formation, 9, 80
producing, 103

Gametocytes, secondary, 87
Gametogenesis, 78–79, 85, 87, 89–91
Gaucher disease (GD), 130–131, 135–136, 213
GD (see Gaucher disease)
Gene dosage, 4, 33–34, 169
Gene families, 3, 162, 167, 211
Gene frequency, 71, 77, 81–84, 214, 221
Gene mutations, 43, 81, 169, 176–177

common CFTR, 191, 193–194
single, 162, 224

Gene sequence analysis, 189–193
Gene superfamilies, 3
Genes

abnormal, 34, 197–198
autosomal recessive, 82
chimeric, 173, 183–184
dosage-sensitive, 4, 33
expressed, 6, 13
human, 2, 33
inherited, 40, 209
insulin, 19
master, 169
mutated disease-causing, 83
normal, 9, 11, 43, 75–77, 79, 173–174
rRNA, 3–4, 59
sickle cell, 82, 84, 214
total, 4, 34
tRNA, 4, 59

Genetic disorders, 46, 58, 66, 71, 77, 131, 148,

185–188, 192, 210, 219

Genetic factors, 69–70
Genetic metabolic diseases, 138
Genetic risk assessment, 26, 28, 30, 32, 55
Genetic screening, 185–187, 189, 191, 193, 195
Genetic variability, 7–8, 10, 90

level of, 87, 90

Index

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Genome, 1, 6, 9, 11, 53, 61–62, 71, 174–175, 184,

206, 225–226

Genomic imprinting, 5, 9–11, 42, 45, 51, 104, 215,

227

Genotypes, 71, 73–76, 192, 212, 221, 224–225
Germline mutation, inherited, 174, 179
Gestation, 118, 153, 165, 187–188, 190–193, 196,

219–220

Glucose, 124, 130, 132
Glutamic acid, normal, 140–141
Glycine, normal, 124–125, 156, 159
Glycoproteins, 130, 159
GSD type, 132
Guanine, 12, 15, 17–18
Guanosine, 15

Hardy-Weinberg Law, 73, 82
HD (see Huntington disease)
Heart defects, 118, 154, 167–168, 204, 219
Heart disease, 63, 66, 69–70, 211, 224
Heel prick, 189–190
Hemoglobin, 39, 140–142, 144–146, 190

-globin subunits of, 141–142, 146

Hemolytic anemia, 143

microcytic hypochromatic, 142–143

Hemophilia, 9, 41–44, 147–152, 207, 209, 211, 222,

224

Hepatocytes, 19, 136
Hereditary breast cancers, 176, 183, 186
Hereditary cancer syndromes, 174, 202, 218
Heterochromatin, 2, 10, 13, 17, 19, 95–96, 226
Heteroplasmy, 37, 51, 55–57, 61–62, 213, 225
Heterozygosity, 74, 83, 138, 183
Heterozygotes, 26, 43, 48, 74–76, 81–84, 123, 127,

129–130, 133, 138–139, 175, 190, 195, 207,
214, 223–227

carriers, 75–76, 79, 142, 226
child, normal, 38

HEXA gene mutations, 192–193
Hexosaminidase, 131, 135, 192–193
Hippel-Lindau disease, 182
Hirschsprung disease, 161, 166
Histone proteins, 6, 12–14
Homeotic genes, 155
Homeotic mutations, 155
Homozygosity, 26–27, 74–75, 77, 138
Homozygotes, 26, 48, 74–75, 81–82, 127, 133, 185,

207, 221, 223, 227

child, normal, 38

Host chromosome, 7–8
HPV (Human papilloma virus), 66–67, 69–70, 201,

217

Human birth defects, 153–154, 167–168
Human cells, 21, 24, 226
Human genome, 1, 6, 10–11, 71, 155, 207
Human papilloma virus (see HPV)
Hunter syndrome, 76–77, 131, 135
Huntington disease (HD), 47–48, 74–75, 81, 118,

186, 190, 195–196, 203, 207, 218

Hurler syndrome, 130, 136
Hyperammonemia, 123, 128, 132, 134
Hypermutation, 23
Hypersensitivity, 109–110, 113
Hypertension, 63, 66, 69, 106, 112
Hypoglycemia, 123–124, 129, 132–134
Hypogonadism, 104, 109, 111, 115
Hypoplasia, midface, 156–157, 163–164

Immune response, 65, 70
Immunodeficiency, 105, 109–111, 113
Inactive genes, 7, 19, 24–25
Individuals

affected, 35, 55, 61–62, 67, 123, 129–130, 138,

154–157, 160–162, 174–175, 185, 196

high-risk, 190, 192
symptomatic, 191–192

Inducer cell, 158–159
Infants, 103, 115, 124, 126, 128–133, 135–136, 141,

143, 154, 165, 206–207, 219

Inheritance, mode of, 183, 206
Inherited disease, 60, 103
Inheriting, probability of, 34
Injuries, minor, 147–148, 150
Insulin, 65–66, 70
Inversion carriers, 109, 118, 208
Isochromosomes, 108, 113, 170
Isolated clubfoot, 68, 70

Jaundice, 123–124, 132, 189

Kartagener syndrome, 154–155, 163
Karyotype, 5, 9, 94, 97–98, 101–102, 118–122, 192,

209–212, 223–224

analysis, 86, 92, 94–96, 187
chaos, 169–170

Klinefelter syndrome, 102, 115, 118, 120, 201, 223

Lactase, 124
Lactic acidosis, 56, 124, 132
Lagging strand, 6, 20, 22–23, 25
LDLR (see Low density lipoprotein receptor)
Leading strand, 20, 22–23
Leber’s Hereditary Optic Neuropathy (see LHON)
Lethargy, 125–126, 128–129, 132–134, 189, 207
Leukemia, 40, 43, 108, 112, 175, 183, 202, 209, 217

mixed-lineage, 182

LFS (see Li-Fraumeni syndrome)
LHON (Leber’s Hereditary Optic Neuropathy),

56–58, 61–62

LHON mutations, primary, 56
Li-Fraumeni syndrome (LFS), 175, 180, 183–184
Liability, 63, 67

threshold of, 68, 70

Lifetime risk, 202, 217
Live births, 101, 106, 112
Liver biopsy, 129, 136
Locus heterogeneity, 28, 40–41, 43, 206, 209, 211,

220, 222, 224

LOD (see Logarithm of the Odds)

score, 79–80, 82

Logarithm of the Odds (LOD), 79
LOH (see Loss of heterozygosity)
Loss-of-function mutations, 48, 127, 161–162,

174–176, 184

Loss of heterozygosity (LOH), 177, 183, 214
Low density lipoprotein receptor (LDLR), 127, 

139

Malaria, 76, 84, 211, 214, 224
Male gametogenesis, 88, 203
Malformations, 153, 155, 163
Maple Syrup Urine disease (MSUD), 126, 133, 136,

138

Marfan syndrome, 27, 39, 41, 43, 154, 160, 164,

166–167, 186, 201–202, 211, 214, 217

236

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Maternal

chromosome, 5, 45, 49, 51–52, 101, 118, 208,

220–221

nondisjunction, 49
serum, 188, 196

Maternal Serum Screening (MSS), 188
Mates, 73, 197
Mating, assortative, 73, 82, 84, 216
Meiosis

complete, 88
metaphase of, 88

Meiotic chromosomes, 94, 100
Mendelian inheritance, 26–27, 29, 31, 33, 35, 37,

39, 41, 63

Menkes disease (MND), 128–129, 134
Menstrual, heavy, 149–150
Mental retardation, 42, 46, 101–102, 104–105, 108,

111, 113, 115, 118, 120, 122, 135, 157, 203,
216, 218–219

Metabolic

diseases, 139, 220
genetic disorders, 123, 125–126, 128, 130–135

Metabolism, 123, 125, 127, 129, 131, 133, 135, 137,

207, 209, 213

Metaphase chromosomes, 16–18, 94, 97, 100
Metaphase plate, 86–87, 89, 226
Microdeletion, 45, 104–105, 111–112, 115–116, 118,

120, 204, 207, 219, 222

Microfibrils, 159–160
Micromelia, 157, 163
Microsatellite DNA, 6, 10–11
Microtubules, 13, 85–86, 105
Mild hemophilia, 147–148, 150
Miller-Dieker syndrome, 105, 112, 116
Minimal residual disease (MRD), 215
Minisatellite DNA, 6
Miscarriages, early, 106, 112, 212
Missense mutation, 123–130, 140–141, 146, 149,

156–157, 159

Mitochondria, 37, 53–55, 58, 62, 126, 138, 140, 211,

223, 225

abnormal, 56, 58, 60, 62
mutated, 55, 61–62

Mitochondrial

diseases, 57, 61–62, 204, 219, 225
disorders, 37, 55, 61–62, 199
DNA, 53, 57, 60, 62
enzymes, 56
genes, 138, 183
genetic disorder, 55–57
genome, 1, 53, 55, 59, 61–62
inheritance, 37–38, 41, 53, 55, 57, 59, 211
matrix, 53–54, 56, 62
mutations, 57, 223
myopathy, 56, 60–61

Mitosis

anaphase of, 92
metaphase of, 13, 16, 92–93

Mitotic spindle, 13, 85–86
MND (see Menkes disease)
Moles, complete, 5, 101
Monosomic sex chromosome disorder, 102
Monosomy, 51, 101–103, 106–107, 111–112, 210
Monozygotic, 64, 70, 202–203, 218
Mosaicism, germline, 41, 174–176, 206, 220
Motor skills, 31, 131, 135–136, 206
MRD (see Minimal residual disease)

MSS (see Maternal Serum Screening)
MSUD (see Maple Syrup Urine disease)
Mucosal surfaces, 149–150
Multifactorial disorders, 63, 69–70, 201, 204, 211,

218, 223

Inherited, 63–65, 67, 69, 197

Multiprotein complexes, 105
Muscle, skeletal, 47, 55–56, 58
Muscle cells, 56, 58, 136

skeletal, 33, 37, 61–62

Muscle hematomas, deep, 147–148, 150
Mutant alleles, 28, 123, 193–194
Mutant gene, 26, 28, 35, 40, 76, 81, 155, 157,

160–162

Mutated cells, clone of, 102–103
Mutated genes, 43, 183, 186, 200, 214–215, 218, 226
Mutation carriers, 73, 209
Mutation frequency, 71, 77–79
Mutation rate, 54, 62

constant, 73, 82

Mutation results, 103, 156–157, 170
Mutation scanning, 189, 191–192
Mutations

disease-causing, 62, 191, 206
dominant, 27, 173, 220, 225
frameshift, 142, 147–148, 159–160, 162
gain-of-function, 48, 127, 156–157, 173
multiple, 186, 202
nondeletional, 141
nonsense, 125, 127–128, 130, 160
null, 209, 222–223
postzygotic, 102–103
private, 189
proband, 174
somatic, 174, 179
splicing, 192
various, 31, 33, 128, 140, 144

Myoclonic epilepsy, 56, 58, 61–62
Myotonic dystrophy, 39, 42, 44, 50–51, 208

Neonatal genetic screening, 188–190, 195, 207
Neonates, 125, 133, 145, 189–190

affected, 189

Neural crest cells, 160
Neural tube defects (NTDs), 63–64, 68, 153,

187–188, 208, 219–220, 222

open, 205, 208, 210, 222–223

Neurofibromatosis type, 175, 177, 181–183
Noncoding DNA, 1–2, 6, 9–11, 54
Nondeletional mutation, common, 141
Nonsyndromic Congenital Intestinal

Aganglionosis, 161, 166

Noonan syndrome (NS), 27–28, 37, 39
Normal protein, increased amounts of, 173
NS (see Noonan syndrome)
NTDs (see Neural tube defects)
Nucleosomes, 12–13, 16–18
Nucleotides, 12, 15, 17, 23, 71, 140, 146

Obligate carrier, 43–44, 219
Offspring, 27, 46, 74, 106, 174–176, 225
OI (see Osteogenesis imperfecta)
Okazaki fragments, 20, 22, 24
Oncogenesis, 169, 173–174, 184
Oocytes, primary, 87–88, 92–93
Organogenesis, 153
Orofacial clefting, 162, 164, 167–168

Index

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Osteogenesis imperfecta (OI), 28, 39, 159–160, 163,

165, 167

OTC deficiency, 128
Oxidoreductase, 53–54, 57, 59

PAH (see Phenylalanine hydroxylase)

deficiency, 125, 133

Pancreatic beta cells, 19, 65–66, 70
Parents

affected, 26, 28, 157, 160–162, 174–176, 211
unaffected, 161, 174–176, 206

Partial trisomy, 107, 112
Paternal age, increasing, 156–157, 161
Paternal

chromosome, 5, 9, 45, 49, 51, 93, 101, 104, 208,

219, 221

nondisjunction, 49
origin, nuclear chromosomes of, 5

Pathways, 125, 128, 133, 159, 171

biochemical, 123, 139, 220
signal transduction, 28, 156, 159

PCR (see Polymerase Chain Reaction)
Pedigree path, 197–198
PGS (see Preimplantation genetic screening)
Phenotypes, 9, 11, 34, 37–38, 46, 51, 55, 73, 102,

105, 173, 220–223

Phenylalanine hydroxylase (PAH), 125, 213
Phenylalanine hydroxylase deficiency (PKU), 125,

133, 202–204, 213, 215, 217–219, 225, 227

Philadelphia chromosome, 108, 119, 173, 201, 214,

217, 226

PKU (see Phenylalanine hydroxylase deficiency)
Polymerase Chain Reaction (PCR), 194
Polymorphisms, 6, 71, 87
Population

African, 141, 190
Ashkenazi Jewish, 109–110, 125–126, 130–131,

191–193

carrier screening, 194
European, 129
general, 27, 127, 175–177, 197, 199–200, 207,

227

genetic screening, 192
genetics, 71, 73, 75, 77, 79
human, 92, 124, 214
incidence, 64–65, 204
large, 73, 82
small, 73, 83, 221, 227

Population risk, 70, 120, 219

derived, 64
general, 64–66, 227

Prader-Willi syndrome, 45, 51, 104, 115, 118,

120–121, 204, 207–208, 221

Preimplantation genetic screening (PGS), 186
Prenatal diagnosis, 188–193, 195–196, 205–206,

208, 219

Primordial germ cells, 87–88
Procollagen, 159–160, 163–164
Prometaphase, 13, 85–86, 89, 91, 93, 96
Protein

domains, 3
families, 3, 86, 170
family, largest, 3
homeodomain, 155
regulatory, 155, 162, 164, 174, 179–180
susceptibility, 176

synthesis, 3–5, 213
treacle, 162
truncation, 191

Protein-coding genes, 1–2, 9, 54, 59
Proteoglycans, 159
Puberty, 40, 87–88, 91
Punnett square, 26–32, 73
Pyloric stenosis, 63–64, 68
Pyrimidines, 12, 15, 17

RB (see Replication bubble)
Receptors, 159, 164, 173, 178, 182

gene/fibroblast growth factor, 163

Reciprocal translocation, 106–108, 112, 173, 217,

226

Recombinants, 78, 80, 82–83
Recurrence risks, 41, 63–66, 68–70, 118, 162,

202–204, 210, 218–219, 223–224

approximate, 68, 204
in multifactorial inherited disorders, 64

Relatives, first-degree, 64–66, 68, 70, 197, 203
Repeat mutations, 45, 47, 49
Replication, 19–21, 25, 53, 61–62, 110
Replication bubble (RB), 19, 22, 172, 174, 179,

182–183

Replication fork (RF), 19–20, 22–24

blockage, 86, 171–172

Replication origin (RO), 19, 22
Replication origins, 19, 22
Resistance, tetracycline, 7–8
Responder cell, 158–159
Restriction fragment length polymorphism

(RFLPs), 71–72, 187, 190, 194

Retinoblastoma, 39, 174–175, 177, 179, 181–184,

207, 221

Rett syndrome, 37, 203, 218–219

classic, 76

Reverse transcriptase, 3, 7–8, 20, 23
RF (see Replication fork)
RFLPs (see Restriction fragment length polymor-

phism)

Ribosomes, 9, 11, 56
Ring chromosomes, 108, 210
Risk

of complication, 206
elevated, 121, 222
factors, 66, 69
greatest, 69, 118–119, 201
high, 70, 108, 112, 186, 225
increased, 27, 46, 102, 111, 120, 175, 183, 208,

210, 215, 218, 222–224

low, 220, 222
of miscarriage, 187, 205
populations, 206, 220

RO (see Replication origin)
Robertsonian translocation (RT), 7, 101, 106–107,

112, 118–121, 201, 208, 210–212, 214, 221,
223–226

carrier, 118–121, 210, 223
chromosome, 107, 121

RT (see Robertsonian translocation)
Rupture, 160, 164

SCD (see Sickle cell disease)
Scoliosis, idiopathic, 64–65
Screening tests, 186, 193, 202, 205–206, 218, 220

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Segments

chromosomal, 98
exchange of, 106, 173

Seizures, 56, 58, 61, 104, 111, 128–129, 131,

134–136, 212

Serum, normal, 189
Severe hemophilia, 147–148, 150
Severe mental retardation, 104, 111, 115, 125, 127,

130, 133, 135

Short interspersed nuclear elements (SINEs), 6
Short tandem repeat polymorphisms (STRPs), 124
Siblings, 27, 40, 59, 68, 70, 102, 111, 174–176, 204,

206, 213, 219–220

Sickle cell disease (SCD), 75, 81, 140–141, 143–146,

190, 203, 218, 225–226

Sickle cell trait, 76, 81, 83, 204, 224–226

carriers of, 81, 219, 226

Signal peptide (SP), 158–159
SINEs (see Short interspersed nuclear elements)
Sister chromatids, 13, 90, 96–97
Skin folds, redundant, 156–157, 163
SLO syndrome (see Smith-Lemli-Opitz syndrome)
Smith-Lemli-Opitz (SLO) syndrome, 127
SP (see Signal peptide)
Spectral karyotyping, 95, 98, 170
Sperm, normal, 103, 121, 212, 225
Spermatocytes, primary, 88, 92–93
Spermatogenesis, 88, 103, 156–157, 161
Stature, short, 28, 31, 57, 102, 104, 109, 111, 113,

115, 124, 132, 135, 156–157, 160, 163, 165

Stem cells, 24, 88, 226
STRPs (see Short tandem repeat polymorphisms)
Structural chromosomal abnormalities, 103,

111–112, 115

Sucrose, 124, 132
Sugars, 12, 15
Sunlight, 20–21, 109
Suppression of cell cycle, 179–180
Synapsis, 80, 86–87, 91–92
Synthesis, reduced, 141–142, 146, 149–150

Target chromosome, 7
Target genes, expression of, 174, 179–180
Targeted mutation analysis, 189–193
Tay-Sachs disease, 131, 136, 192–193, 195, 204,

219–220

TD (see Thanatophoric dysplasia
Testing methods, 189–193
Tetraploidy, 101
Thanatophoric dysplasia (TD), 157, 159, 163, 165
Thymine, 12, 15, 17–18
Trait, 63–65, 68, 70–71, 73, 202, 218, 221

altered, 1–2

Transcription factors, 106, 156, 158–159, 172–173,

182, 211

Translocation chromosomes, 121, 225
Translocation trisomy, 106–107, 112
Trisomic sex chromosome disorder, 102

Truncated genes, 3
Tumor, 40, 105, 112, 179–180, 183–184, 214

protein, 182
suppressor genes, 25, 169, 173–175, 179,

183–184, 202, 209, 227

testicular germ cell, 108, 113

Turner syndrome, 102, 108, 113, 115, 118, 120, 122,

188, 201, 222–223

Twins, dizygotic, 68, 70, 202–203, 218

Ultrasonography, 187–188, 193, 195–196, 202, 205,

210, 219, 222

Unaffected individuals, 67, 186
Unbalanced translocation, 98, 119
Uniparental disomy, 28, 37, 45, 49, 51–52, 207

and repeat mutations, 45, 47, 49

Unprocessed pseudogenes, 3
Uracil, 12, 15, 17–18, 20–21, 109
Urea cycle disorders, 128, 134

Variable number tandem repeat (VNTRs), 6,

71–72, 87

Virus, human papilloma, 66–67, 69
Visualize, 93, 95
VNTRs (see Variable number tandem repeat)
Von Willebrand disease (VWD), 148–152
VWD (see Von Willebrand disease)

prevalence of, 149

Waardenburg syndrome, 164, 166
WAGR syndrome, 105, 112
WBSCR (see Williams-Beuren syndrome critical

region)

Willebrand disease, 149, 151–152
Williams-Beuren syndrome critical region

(WBSCR), 105

Williams syndrome (WS), 105–106, 161, 204
Wilms tumor, 6, 105, 112, 177, 182
Wilson Disease (WND), 129, 134, 136
WND (see Wilson disease)
Wolf-Hirschhorn syndrome, 104, 111, 115
Women, pregnant, 81, 187–188, 193, 195, 204, 208,

210, 219

WS (see Williams syndrome)

X-linked

disease, 219–220
disorder, 37
genes, 30, 32, 41, 183
recessive diseases, 9, 41–42, 82–84, 201, 209,

211, 224

disorders, 32–34, 76–77, 190, 203, 207, 218,

220–222, 224

Xeroderma pigmentosa (XP), 4, 21, 33–34, 39, 109,

117

XP (see Xeroderma pigmentosa)

Zygote, trisomic, 49

Index

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