The Practical Guide to the Genetic Family History
Published 19 February 2010
Robin L. Bennett
Citations126
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Abstract
The Language of the Pedigree. Practical Inheritance. Getting to the Roots: Recording the Family Tree. Directed Medical--Genetic Family History Queries: Separating the Trees from the Forest. Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer. Medical Verification of a Family History. The Challenge of Family History and Adoption. The Pedigree and Assisted Reproductive Technologies. Making a Referral for Genetic Services: Where to Turn and What to Expect. Pedigree Predicaments. Glossary. Appendices. Index.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
Medical Entomology and ZoologyThe Metabolic and Molecular Bases of Inherited Disease
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Data Archiving and Networked Services (DANS)Syndromes of the Head and Neck
2,060 Citations1976Raoul C. M. Hennekam, R J Gorlin +1 more
NatureA serine/threonine kinase gene defective in Peutz–Jeghers syndrome
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The Genetic Basis of Human Cancer
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Medical Entomology and ZoologyGenograms in Family Assessment
634 Citations1985Monica McGoldrick, Gerson McGoldrick +1 more
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JNCI Journal of the National Cancer InstituteMultiple Primary Cancers in Families With Li-Fraumeni Syndrome
555 Citations1998Michie Hisada, Judy E. Garber +3 more
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Journal of Medical GeneticsHereditary Hearing Loss and its Syndromes
511 Citations1995William Reardon
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The American Journal of Human GeneticsNovel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss
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THOMPSON & Thompson genetics in medicine
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PubMedGerm-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
466 Citations1997Yoshiyuki Akiyama, H Sato +5 more
Somatic mutations of hMSH6 were observed in three colorectal tumors from the patient, indicating two-hit inactivation, and microsatellite instabilities at mononucleotide repeats were detected in all three tumors, suggesting that h MSH6 is responsible for tumorigenesis in atypical HNPCC.
Investigative RadiologyRadiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias
449 Citations1993Hooshang Taybi, Ralph S. Lachman +1 more
New England Journal of MedicineCongenital Malformations
365 Citations1983Harold Kalter, Josef Warkany
NatureHomozygotes for Huntington's disease
352 Citations1987Nancy S. Wexler, Anne B. Young +17 more
HD appears to be the first human disease of genetically documented homozygosity that displays complete phenotypic dominance, indicating that the normal allele may play a role in ameliorating the disease process.
Choice Reviews OnlineHandbook of normal physical measurements
350 Citations1990
The handbook of normal physical measurements is universally compatible with any devices to read, and will help you to get the most less latency time to download any of the authors' books like this one.
PubMedOrofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants.
308 Citations1996Gary M. Shaw, Cathy R. Wasserman +5 more
Evidence is offered that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele.
Journal of Child Psychology and PsychiatryAutism and Known Medical Conditions: Myth and Substance
293 Citations1994Michael Rutter, Anthony Bailey +2 more
It is concluded that the rate of known medical conditions in autism is probably about 10%; however the rate appears to be higher in cases of autism associated with profound mental retardation and in Cases of atypical autism.
The American Journal of Human GeneticsInherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis
280 Citations1997Eric D. Lynch, Elizabeth Ostermeyer +13 more
Germ-line PTEN mutations predispose to breast cancer in association with CD, although the signs of CD may be subtle, and mutant transcripts appeared unstable in RNA from normal tissues from three families.
American Journal of EpidemiologyComparison of Self-reported and Database-linked Family History of Cancer Data in a Case-Control Study
276 Citations1997Richard A. Kerber, M. L. Slattery
Results indicate that subjects in a case-control study are able to report accurately family histories of several common kinds of cancer and that they can do so without observable recall bias, and that the accuracy of self-reports may not be adequate for reproductive tract cancers and cancers such as rectal cancer that are frequently confused with cancers of similar organs.
TeratologyReduced recurrence of orofacial clefts after periconceptional supplementation with high‐dose folic acid and multivitamins
259 Citations1995M Tolarová, John A. Harris
Evaluation of pregnancies in women at risk of a child with CL +/- P found efficacy was greater for subgroups with unilateral than with bilateral cleft and for male than female probands, but no efficacy was observed forfemale probands with bilateralCL +/- P.
Human GeneticsDistinct spectrum of CFTR gene mutations in congenital absence of vas deferens
257 Citations1997Thilo Dörk, Bernd Dworniczak +14 more
It is shown that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.
Journal of Chronic DiseasesThe accuracy of patient reports of a family history of cancer
256 Citations1985Richard R. Love, Alida M. Evans +1 more
The effect of the corresponding levels of error should be estimated in epidemiologic studies and should motivate clinicians to seek medical records in situations where a family history of cancer influences clinical management.
American Journal of Medical GeneticsObstetrical and gynecological complications in fragile X carriers: A multicenter study
205 Citations1994Charles E. Schwartz, Jane H. Dean +8 more
Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications, and experienced cessation of menses prior to age 40 years at a significantly higher rate.
American Journal of PsychiatryThe family history method: whose psychiatric history is measured?
193 Citations1991Kenneth S. Kendler, Judy L. Silberg +4 more
Twins with a history of major depression or generalized anxiety disorder but not twins with alcoholism were significantly more likely to report the same disorder in their parents than were their unaffected co-twins.
JAMACharacteristics of Prostate Cancer in Families Potentially Linked to the Hereditary Prostate Cancer 1 (HPC1) Locus
192 Citations1997Henrik Grönberg
Families that provide evidence for segregation of an altered HPC1 gene are characterized by multiple cases of prostate cancer that, in most respects, are indistinguishable from nonhereditary cases, indicating the clinical importance of early detection in men potentially carrying prostate cancer susceptibility genes.
TeratologyPopulation-based case control study of folic acid supplementation during pregnancy
180 Citations1996Andrew E. Czeizel, Márta Tóth +1 more
The case control pair analysis showed a significant protection after folic acid supplementation during the critical period of cardiovascular defects, neural tube defects, cleft lip with or without cleft palate and posterior clefts palate.
The American Journal of Human GeneticsAttitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness
170 Citations1998Anna Middleton, Jenny Hewison +1 more
Evidence is provided of a predominantly negative attitude toward genetics and its impact on deaf people, in a population for whom genetic-counseling services are relevant.
Family Planning PerspectivesImpaired Fecundity in the United States: 1982-1995
166 Citations1998Anjani Chandra, Elizabeth Hervey Stephen
The dramatic increase in the numbers of U.S. women with impaired fecundity occurred because the large baby-boom cohort, many of whom delayed childbearing, had reached their later and less fecund reproductive years.
The Japanese Journal of Human GeneticsEssential medical genetics
159 Citations1994James Connor, M.A. Ferguson‐Smith
This sixth edition of Essential Medical Genetics has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques.
The American Journal of Human GeneticsPeutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4
149 Citations1997Hamid Mehenni, Jean-Louis Blouin +9 more
Results confirm the mapping of a common P JS locus on 19p13.3 but also suggest the existence, in a minority of families, of a potential second PJS locus, on 19q13.4.
PubMedMolecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.
140 Citations1997Christine Carlson, Demitri F. Papolos +7 more
The remarkably high prevalence of bipolar spectrum disorders, in association with the congenital anomalies of VCFS and its occurrence among nondeleted VCFS patients, suggest a common genetic etiology.
Genetic Diseases of the Eye
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This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.
The child with multiple birth defects
128 Citations1982M. Michael Cohen
TeratologyMinor malformations and physical measurements in autism: Data from Nova Scotia
121 Citations1997Patricia M. Rodier, Susan E. Bryson +1 more
Abnormal ear configuration was the minor malformation most characteristic of the developmental disability group, and the subset of Down syndrome children had single transverse creases of the palm and epicanthic folds that resulted in significantly increased rates of these anomalies in the developmentally disabled controls.
The American Journal of Human GeneticsA Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1
118 Citations1998James R. Howe, John C. Ringold +4 more
A focused genome screen in a large family segregating FJP demonstrated localization of a gene for FJP to chromosome 18q21.1 by linkage, and raised the possibility that either DCC or DPC4 could be responsible for F JP.
Cambridge University Press eBooksA Clinical Guide to Inherited Metabolic Diseases
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94 Citations1994Beth Theis, Norman F. Boyd +2 more
The validity of information reported by patients with breast cancer on cancer in first- and second-degree relatives was assessed and the questionnaire alone should yield adequate data for identifying families that warrant further investigation.
Human ReproductionChromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection
93 Citations1997Ulrike Mau, Ingo Backert +2 more
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Journal of Medical GeneticsPancreatic adenocarcinoma: epidemiology and genetics.
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The autosomal dominantly inherited hamartoma poly-posis syndromes comprise juvenile polyposis syndrome, Cowdensyndrome, Bannayan-Ruvalcaba-Riley syndrome, BRR, and Peutz-Jegh-erssyndrome and a more reliable and objective means of differentiating among them would be desirable, such as one based on molecular diagnosis.
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Cranial nerves cerebral and vertebral malformations disorders of higher cerebral function disorders associated with retinitis pigmentosa dementia epilepsy myoclonic epilepsy vascular lesions cerebral tumours neurocutaneous malformation cerebellar syndromes hereditary neuropathies anterior horn cell disease motor neuron disease spastic paraplegia/HSP basal ganglia disease muscular disorders multiple sclerosis degenerative illnesses of childhood.
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68 Citations1989Maria Koch, H Gaedke +1 more
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48 Citations1997Russell F. Jacoby, Steven Schlack +2 more
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DigitalGeorgetown (Georgetown University Library)Social work and genetics : a guide for practice
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Most of the work in genetic epidemiology during the past decade has been devoted to linkage and other family studies, rather than to population-based investigations of the type that characterize much of mainstream epidemiology.
Annals of MedicineY-chromosome Microdeletions and Male Infertility
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Two candidate gene families, namely the RNA-binding motif-containing gene family and the deleted-in-azoospermia gene family, have been cloned by deletion mapping of infertile men with Y microdeletions and proposed as candidates for the putative azoospermia factor.
American Journal of Kidney DiseasesInherited disorders of the kidney
19 Citations1999Gregory G. Germino
Find the secret to improve the quality of life by reading this inherited disorders of the kidney and make the words as your good value to your life.
Current Opinion in NeurologyGenetic causes of hearing loss
18 Citations1998Frans P.M. Cremers
In patients with X-linked deafness type 3, a hotspot for deletions was found 900 kb proximal to the causal gene POU3F4, and the connexin 26 gene is mutated in approximately 50% of all recessive deafness families, enabling early diagnosis and carrier detection.
Advances in genetics8. Molecular Genetics of Familial Cardiomyopathies
18 Citations1997Aman S. Coonar, William J. McKenna
This chapter reviews the molecular genetics of familial cardiomyopathies and focuses on Restrictive Cardiomyopathy, which probably has the greatest degree of controversy regarding diagnosis and it truly represents a distinct myocardial disorder.
Trends in GeneticsGenetics and human reproduction
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Assisted reproduction for couples with an infertility problem or donor insemination has a special responsibility to ensure as far as possible that the babies in whose conception they assist are in good health.
PubMedPredisposition testing for inherited breast cancer.
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An overview of predisposition testing for inherited breast cancer is provided, including general facts about testing, potential risks and benefits, specific genetic counseling issues, and molecular details of known breast cancer susceptibility genes.
Inherited susceptibility to cancer : clinical, predictive, and ethical perspectives
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Ethical, legal and social issues, screening, counselling, gene and mutation detection, screening for cancer in those at high risk as a result of genetic susceptibility, and late-breaking developments are examined.
Journal of Genetic CounselingDevelopment of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State
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Fertility and SterilityGenetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment
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AndrologiaGenetic causes of male infertility
11 Citations2009Peter Wieacker, Sibylle Jakubiczka
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Genetic EpidemiologyReporting bilaterality status in first‐degree relatives with breast Cancer: A validity study
9 Citations1993Brenda Breuer, Kathryn M. Kash +4 more
Journal of Genetic CounselingGenerations Lost: A Cancer Genetics Case Report
7 Citations1997Ellen Matloff
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PubMedGenetic testing for cancer susceptibility: challenges for creators of practice guidelines.
6 Citations1997Greely Ht
Susceptibility tests are becoming available for breast cancer, ovarian cancer, prostate cancer, colon cancer, retinoblastoma, and hereditary medullary thyroid cancer--cancers both common and rare.
Focus on Exceptional ChildrenThe Psychosocial Impact of Genetic Disease
4 Citations1988Audrey Costello
To understand the impact of a genetic disease, some features common to most genetic disorders will be reviewed first.
BMJHannah's Heirs: The Quest for the Genetic Origins of Alzheimer's Disease
2 Citations1994Theresa M. Marteau
Daniel Pollen tells the story of this discovery of the link between the abnormal gene for familial Alzheimer's disease and the long arm of chromosome 14, starting with a visit to his surgery of a member of one of the largest known families affected by familial Alzheimer’s disease.
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