Books
in black and white
Main menu
Home About us Share a book
Books
Biology Business Chemistry Computers Culture Economics Fiction Games Guide History Management Mathematical Medicine Mental Fitnes Physics Psychology Scince Sport Technics
Ads

The Practical Guide to the Genetic Family History - Bennett L.R.

Bennett L.R. The Practical Guide to the Genetic Family History - Wiley-liss, 1999. - 265 p.
ISBN 0-471-22391-3
Download (direct link): thepracticalguidetot1999.pdf
Previous << 1 .. 2 3 4 5 6 7 < 8 > 9 10 11 12 13 14 .. 119 >> Next

Oculomandibulofacial dysostosis Hallervoden-Spatz disease, 105-109 Hamartomas colonic, 133 iris, 135 retinal, 135 Hand anomalies, 74-75, 86-87 Hartnup disorder, 107-108 Head, medical-family history questions, 56 Hearing loss. See Deafness/hearing loss Hearsay, pedigree and, 50 Heart disease, 1, 7, 107-111
Hemangioblastomas, 5, 135 Hematologic system, questions to ask about, 58 Hemizygous, defined, 16 Hemochromatosis cardiomyopathy, 110 hepatocellular carcinoma, 130-136 infertility, male, 121-123 prevalence, 22 Hemophilia, 23 Hepatic encephalopathy, 107 Hepatitis B/C, 140
Hereditary motor sensory neuropathies (HMSN), 100-102 Hereditary mutations, new, 34 Hereditary non-polyposis colon cancer (HNPCC), 17, 132-134 Hernia, umbilical, 75 Heroin, maternal use, 116 Heterochromia, 73, 86 Heterogeneity, 17 Heteroplasmy, 29 Heterozygous, defined, 16 Hidden mutation, 18 Historian, function of, 40, 42 HIV infection, 140 Holt-Oram syndrome, 109 Homocystinuria arachnodactyly, 74 mental illness, 98, 107 pectus excavatum, 75 prevalence, 22 Homoplasmy, 29 Homozygous, defined, 16, 19 HTLV 1 (human lymphocyte virus 1), 140 Human Genome Project, 10, 214 Human papilloma virus, 140 Human teratogens, 60 Hunter syndrome, 98. See also Mucopolysaccharidoses Huntington disease (HD) dementia, 104-105
diagnosis, importance of confirming, 145-146 gene alteration, 29 general, 28-29 juvenile, 29, 107 minors, testing, 158 movements, uncontrolled, 101 presymptomatic testing, 52 psychiatric illness, 107-109 Hurler syndrome 75. See also Mucopolysaccharidoses Hydantoin, fetal, 73-74, 80, 95, 116 Hypercholesterolemia, 20 Hyperlipidemia, familial, 73
INDEX 245
Hypertelorism, 73 Hypertension, 25
Hyperthermia, maternal, 79, 81, 118 Hypertrophic cardiomyopathy (HCM), 108 Hypochondroplasia, 119 Hypoglycemia, 90, 97 Hypogonadism, 26, 70, 123 Hypomania, 107 Hypophosphatemic rickets, 113 Hypotelorism, 73 Hypotonia, 70, 93
Ichthyosis, X-Linked. See Steroid sulfatase deficiency
Immune disorders. See also, Infections, recurrent information resources, 222 questions to ask about, 58 ā€œIā€™m My Own Granpaw,ā€ 238 Imprinting, 13-14, 32-33, 97 Incontinentia pigmenti, 23, 74, 91 Index case, defined, 39 Infections, recurrent, 93, 112, 116 Infertility. See Male infertility causes of, 25, 120-123 pedigree symbols, 50 Information resources, types of, 150-153. See also Genetic library Inguinal hernia, female with 26 Inheritance patterns autosomal, 13
autosomal dominant, 15, 18-19 autosomal recessive, 15, 19-21 chromosomal, 13, 15, 25 clues to recognizing, 15 dominant and recessive, 18 mitochondrial, 13, 15, 29-33 multifactorial, 15, 25 nontraditional, 27-33 patient misconceptions regarding, 11 polygenic, 25 recognition of, 15, 27 types of, 13, 15 X-Linked, 15, 21, 25 Y-linked, 25 Inherited diseases
information resources, 217-218 red flags in family history suggestive of, 70 Institutional Review Board (IRB), 175 Intermediate gene expression, 18 International Committee of Medical Journal Editors (ICMJE), 177 International Society of Nurses in Genetics (ISONG), 171 Internet, as information resource, 150-153
Interviews
closing questions, 63 face-to-face, 39 language guidelines, 54-55 questions, topics for alcohol abuse, 59 birth defects, 59 cancer, 59 drug abuse, 59 ethnicity, 59-62 general family history, 56 occupation, 59 Intracytoplasmic sperm injection (ICSI), 122, 123, 163 Introns, 14 Iris coloboma, 73, 89
Jervell-Lange-Nielsen syndrome, 87, 109-110 Juvenile polyposis (JP), 130-132
Kabuki syndrome, 74 Kallman syndrome, 86-87, 121, 123 Kartagener syndrome, 111-112, 121, 123 Kearns-Sayres syndrome, 31, 105, 110 Kennedy disease. See Spinobulbar muscular atrophy Key, pedigree symbols, 39 Kidney disease. See Renal disorders Kidneys, malformation of, 112 Kinship, 62
Klinefelter syndrome, 121-123 Kneist dysplasia, 117 Krabbe disease, 98, 107
Labeling, genetic disorders as, 167 Labor and delivery, complications of, 76 Lactic acidosis, 31 Lafora disease, 106, 107
Langer-Gideon syndrome (trichorhinophalangeal syndrome II), 74-75, 136. See also Trichorhinophalangeal syndrome (TRPS) Language, in interviews common, use of, 55
with deaf/hearing impaired individuals, drug and alcohol abuse, 59 with individual with mental
retardation/developmental delays, 93-94 short stature, 119 word choice, 54-55 Lead poisoning, renal tubular acidosis and, 114 Learning disabilities, 71, 97 Leber hereditary optic neuropathy (LHON), 31 Legend, pedigree symbols, 39 Leigh disease, 107
246 INDEX
Lenticonus, multiple, 89
Lesch-Nyan syndrome, 98
Leukemia, 69, 132-133, 136, 139-140
Lewy Body disease, 104-105
Life events, acknowledgement of, 55
Li-Fraumeni syndrome (LFS), 69 130-133
Limb anomaly, 72, 77
Line definitions, in pedigree, 41-42, 163-165 Line of descent, 42, 165 Lipomas, 103, 131 Lip reading, 84
Liver (hepatocellular) cancer, 136 Locus, defined, 14 Loss of imprinting (LOI), 32 Lowe syndrome, 90, 113, 232 Lung cancer, 133, 135, 138, 139 Lymphedema, 26 Lyonization, 21
Previous << 1 .. 2 3 4 5 6 7 < 8 > 9 10 11 12 13 14 .. 119 >> Next