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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
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cancer risks and, 139 general interview question regarding, 59 Oculo-auriculo-vertebral syndrome, 20, 86 Oculomandibulofacial syndrome, 90, 116 Odors, unusual, 93, 96 Offit, Kenneth, Dr., 140 Oligohydramnios, 77, 114 Oligospermia, 70, 122
Online Mendelian Inheritance in Man (OMIM), 1, 213
Onchyo-osteodysplasia, 113 Opitz syndrome, 73, 116 Ophthalmologic testing, 104
248 INDEX
Ophthalmoplegia, chronic progressive external (CPEO), 31
Ornithine transcarbamylase deficiency (OTCD), 23, 107
Orofacial digital syndrome, 23, 74 Osteogenesis imperfecta, 20, 73, 86, 118 Oto-palato-digital syndrome, 73 Ovarian cancer, 138-146
Pancreatic cancer, 133, 135-136 Pancreatic disease, 112, 119 Parental imprinting, 13 “p” arm, 14 Paternity
misattribution of, 17, 33, 66 testing, 17 Patient, generally decision-making, 8 medical education, 8-10 resources for obtaining own medical-family history, 147-153 Pearson, Karl, 174
Pedigree. See also Symbols, pedigree applications, generally, 4, 7-10 assisted reproduction, 163-165 case studies, 65-66, 226-237 clinical pedigree form, sample, 195 clues, 15
cost-effectiveness of, 4-5
defined, 1-2, 39
as diagnostic tool, 4-5
essential information to record, 40
evolution of, 10-11
family tree. See Family tree pedigree
first cousins, 44, 62
first cousins once removed, 44, 62
first degree relative, 44
history, 2-4
importance of, generally, xiv, 1-2, 39 masking, 177-178 medical records, 39-40 names of persons, 43
nomenclature, handy reference tables, 191-193 patient education and, 8-10 patient misconceptions and, 10-11 predicaments, 173-180 publications, 176-179 recording styles, 174—175 sample, Elizabeth Taylor, 48 sample, Wedgwood-Darwin-Galton family, 64, 177-178 second cousins, 44, 62 second degree relative, 44 third degree relative, 44
Pellagra, 108 Penetrance, 18
Permanent, genetic disorders as, 167 Peroxisomal disorders, 113 Peutz-Jeghers syndrome, 17, 74, 130-132 Pfeiffer syndrome, 74-75 Phakomatoses, 114 Phenotype, 14, 18
Photo album, of family, 63, 72, 98, 225 Pick disease, 104-105, 107 PKU (phenylketonuria) maternal, 79-80, 95 prevalence, 22 untreated, 90, 99, 107, 167 Pleiotropy, 31 Pollen, Daniel A., 104 Polycolonal lymphomas, 140 Polycystic kidney disease, 20, 22, 109, 113 Polydactyly, 20, 70, 76 Polygenic inheritance, 16, 25, 99 Polyps, colonic Population diversity, 56 Porphyrias, 107-109 Prader-Willi syndrome, 32-33, 75, 97 Predictive testing, 54 Predisposition genetic testing, 52 Pregnancy
birth anomalies. See Birth anomalies fetal anomalies, ultrasound detection, 81-82 mental retardation and, 97 neural tube defects (NTD), 80-81 obstetric complications, implications of, 99 pedigree symbols, 45-57 Premutation, 28 Prenatal, generally
infection, implications of, 96 testing, 169 Prescription drugs, birth anomalies and, 76 Preselection, 170 Presenile cataracts, 88 Presymptomatic carrier, 52-53 Privacy issues, 147, 167, 173, 177 Proband, defined, 39 Proprionic acidemia, 106 Prostate cancer, 132, 138-139 Pseudohypoparathyroidism, 91 Pseudoxanthoma elasticum, 110 Psychiatric abnormalities. See Mental illness PTEN mutations, 134 Ptosis, 73
Pyeritz, Reed, Dr., 11
Pyruvate carboxylase deficiency, 113
“q” arm, 14,
INDEX 249
QT syndrome, long, 109 Questionnaires, medical-family history, 39 Questions. See also Interviews closing, 63
medical-family history, 56-69. See also specific types of disorders
Racial differences. See Ethnicity
Recording styles, pedigree information, 174-175
Red flags in medical-family history, 70
Relationship line, 41, 165
Relatives, degrees of, 43-44
Renal amyloidosis, 113
Renal disorders
information resources, 222 medical-family history questions, 114-115 types of, 84, 112-115 carcinoma, 132-133, 135 Renal system
disorders of. See Renal disorders questions to ask about, 58 Renal tubular acidosis (RTA), 113-114 Reproduction
failure with. See Reproductive failure pedigree symbols, 45 questions to ask about, 58 Reproductive failure, genetic causes of, 120-123. See also Assisted reproductive technologies (ART); Male infertility Researcher, in family studies, 175-176 Respiratory disease, chronic gene contributors, 111 medical-family history questions for, 112 types of, overview, 111-112 Respiratory system
chronic disease. See Respiratory disease, chronic questions to ask about, 57 Resta, Robert, 1, 8, 180 Restrictive cardiac myopathy, 109 Retinal degeneration, 88-89 Retinitis pigmentosa, 86 Retinoic acid, 80
Retinoblastoma, 19, 130-132, 136 Rett syndrome, 23, 99 Rice, Josephine B., 9 Rice, Ted, 9
Ricketts, vitamin D resistant, 23 Risk. See specific types of disorders calculation of, 7 factors of, identification of, 7 Robinow syndrome, 73-75 Romano-Ward phenotype, 109 Rubenstein-Taybi syndrome, 73-75, 116, 118
Rubella, maternal, 89, 90, 103, 113, 116 Rubenstein, Wendy S., Dr., 68 Rtidin, Ernst, 2-3
Sandhoff disease, 106
Sanfilippo syndrome, 73, 98, 107-108. See also Mucopolysaccharidoses Sarcomas, 133, 135-136 Schizophrenia, 32, 107-108 Schwartz, Peter, Dr., 5 Sclerae, blue or gray, 73, 86, 117 Screening, using pedigree to identify need for, 7-8
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