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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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Robin L. Bennett
Seattle, Washington
*From TH Murry (1997). Genetic exceptionalism and “future diaries”: Is genetic information different from other medical information? In: MA Rothstein (ed) Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era. New Haven, London: Yale University Press.
Index
Aarskog syndrome, 73-75, 116, 118 Absence seizures, 102 Achondroplasia, 19-20 Acidosis, 93
Acquired immunodeficiency syndrome (AIDS), 104, 140
Acute intermittent porphyria, 107-108 Adenine (A), 14
Adenomatous polyposis coli (APC) gene, 134 Adoption closed, 157 defined, 154-155
genetic testing for children placed for, 157-158
information disclosure, generally, 156 laws, 155-157
model medical-family history form need for, 158-159 sample, 199-211 pedigree symbols, 49-50 record policy, 156 Adrenal leukodystrophy, X-linked, 98, 107 African Americans
alpha-1-antitrypsin deficiency in, 112 cystic fibrosis in, 20 polydactyly, post-axial in, 76 sickle cell anemia in, 22 Albinism, 22, 136
Albright hereditary osteodystrophy,74 Alcoholism, implications of, 107, 114, 120, 139 Alcohol use,
maternal. See Fetal alcohol syndrome miscarriages, 120 interview questions, 59 Alleles, 14, 16
Alliance of Genetic Support Groups, 213 Alpha-1-antitrypsin deficiency, 22, 111-112, 136 Alport syndrome, 91, 113-115 Alzheimer disease, 104 Ambiguous genitalia, 26, 45, 70 Amenorrhea, 26, 70, 120-121 American Association on Mental Retardation, 92 American Board of Genetic Counseling, 169 American Board of Medical Genetics, 169 American College of Medical Genetics, 171 American College of Obstetrics and Gynecology (ACOG), 4-5 American Sign Language (ASL), 84 American Society of Clinical Oncologists (ASCO), 4, 140 American Society of Human Genetics (ASHG), 156-171 Amniotic bands, 77-79 Amyloidoses, 113, 115 Androgen insensitivity syndromes, 121-122 Aneurysms, 109
Angelman syndrome, 32-33, 74, 98 Angiomas, retinal, 4, 115, 135 Aniridia, 115
Anomalies, chromosomal inheritance, 26. See also specific types of anomalies Anticipation, 28
Arrhythmogenic right ventricular
cardiomyopathy (ARVC), 109 Arthrogryposis, 118 Ashkenazi Jews
breast cancer mutations in BRCA1/BRCA2, 140
cystic fibrosis, prevalence in, 20 inherited disorders common in, 61
239
240 INDEX
Ashkenazi Jews (continued)
Tay-Sachs disease, prevalence in, 20 Asian Americans
alpha-1-antitrypsin deficiency, 112 cleft lip and palate, 76 cystic fibrosis, 22 Assisted reproductive technologies (ART) donor screening, 162-163 gamete donation
pedigree symbols, 163-165 risks with, 160-162 intracytoplasmic sperm injection, 163 Assortative mating, 17 Asthma, 25, 111
Asymptomatic carrier, 25, 52-53
Ataxia, 31, 70, 102-103, 107
Ataxia telangiectasia, 98, 136
Atherosclerosis, 109
At-risk family members, evaluation of, 7
Autism, 99-100
Autosomal dominant (AD) inheritance, 15-16,
18, 83. See also specific types of disorders Autosomal dominant syndromes, examples of, 20 Autosomal recessive (AR) inheritance, 15-16,
19-22. See also specific types of disorders Autosomal recessive syndromes, examples of, 22 Autosomes, 13 A&W, in pedigree, 50
Azoospermia, 70, 122. See also Male infertility
Bannayan-Zonana syndrome, 75, 134 Bardet-Biedl syndrome, 75, 115 Basal cell nevus syndrome, 17 Beckwith-Wiedemann syndrome, 73, 75 Behavioral abnormalities, severe, 70, 93. See also Mental illness Belief system, impact of, 56, 174 Bender, Michael, 155 Berube, Michael, 94, 173 Biochemical disorders, 95. See also Metabolic disorders Bipolar disorder, types I and II, 107 Birth anomalies, overview causes of, generally, 26 classifications, 71-72, 74, 76-77 cleft lip with/without cleft palate, 77, 79 congenital heart defects (CHD), 79-80, 109 deafness/hearing loss, 83-88 frequency of, 71
information resources, 214, 220-221 medical-family history questions, generally, 78 mental retardation, 92-98 minor, 73-75 multiple, 70, 72
neural tube defects (NTD), 80-81 neurological disorders, 99-102 physical, 71-75 seizures, 102 teratogens causing, 71 ultrasound, detection by, 81-82 vision impairment, 88-92 Birthmarks, 70, 98 Bladder cancer, 138-139 Blended families, 45, 47-48 Blindness, genetic, 20, 88 Bloom syndrome, 116, 118, 136 Brachydactyly, 74 Brain imaging, 104 Brain injury, 107 Brain tumors, 5, 107, 133, 135 Branchio-oto-renal syndrome (BOR), 73, 83-84, 86, 114-115 BRCA1/BRCA2, 17, 140. See also Breast-
ovarian cancer syndrome (HBOC); Breast cancer
Breast cancer. See also Cancer
Claus model, risk estimation using, 141-142 pedigree representation, 43 predisposition for, 7, 17, 52, 137-142 risk assessment, 7-8 British sign language, 84 Brooks, Van Wyck, 166 Burkitt’s lymphoma, 140
CADASIL syndrome, 105-108 Cancer, See also specific types of cancer age at onset, 137-139, 141 breast cancer, 17, 132-133, 137-142 breast cancer, male, 131,133, 136 case illustration, 235-237 childhood, 130 colon, 133, 138-139 environmental exposures, 139 ethnicity and, 140
familial cancer syndromes, generally, 138—
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