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Biomedical subjects

R R Lebel

Publications and source records attributed to R R Lebel.

At least 19 recordsLinked to original sources
PubMed1994

DNA testing and genetic counseling: truth or consequences.

Advances in medical genetics are providing a major clinical challenge to practitioners seeing patients concerned about their risk of developing either inherited disease or susceptibility to acquired disease. Popular information can easily exceed our professional ability to provide services to well-read patients who want answers with scientific certainty. The challenge also involves ethical questions regarding confidentiality and the way that results are disclosed. More often than not, the test itself becomes the focus of psychosocial expectations for the future and lifestyle of the patient and family. The behavioral consequences of disclosure of test results need to be anticipated by the caregiver to avoid adverse psychological outcomes.

DNA↗
PubMed1989

Wisconsin consanguinity studies. II: Familial adenocarcinomatosis.

Predisposition to carcinoma in certain families has been recognized as an autosomal dominant trait. We describe a large pedigree (over 1,000 persons) including ten consanguineous unions with inbreeding coefficients from 0.02 to 0.17. Persons of consanguineous parentage accounted for 16 of 18 cases of adenocarcinoma (most of which were colorectal). Three women with breast cancer were relatives but not of consanguineous parentage. Only six of 36 persons with a malignancy of any kind were unrelated spouses, and only one of these had adenocarcinoma. Multiple primary carcinomas and/or early age-of-onset were observed only in products of consanguinity. In this extended family, the occurrence of adenocarcinoma appears to segregate as an autosomal recessive trait. It is conceivable that a proto-oncogene is segregating in this family and that, in some members, consanguineous unions have produced homozygosity for this oncogene.

Adenocarcinoma↗
PubMed1984

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.

A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

Abnormalities, Multiple↗
PubMed1983

Consanguinity studies in Wisconsin I: secular trends in consanguineous marriage, 1843-1981.

Over 920,000 Roman Catholic marriages have taken place since the Archdiocese of Milwaukee was established in 1843. Most of these records are extant, and all have been examined to ascertain consanguineous marriages. The changing average population coefficient of consanguinity has been calculated, by year and by decade, showing a clear downward trend since the turn of the century. The data are compared with reports of consanguineous marriage incidence from around the world, and in particular with all available previous reports from the United States.

Catholicism↗