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Evidence for a major gene in familial anencephaly.
Department of Human Genetics, Medical College of Virginia, Richmond.
A 21-year-old white woman sought counseling after the birth of two consecutive anencephalic male fetuses with complete rachischisis and discordant renal dysplasia. The presence of parental consanguinity prompted reconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably nonconsanguineous families previously reported. Using classical segregation analysis, the segregation ratios in the non-sporadic cases were consistent with a major autosomal recessive locus in both populations.
PMID: 2333913 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
Kavaslar GN, Onengüt S, Derman O, Kaya A, Tolun A.
Am J Hum Genet. 2000 May; 66(5):1705-9. Epub 2000 Apr 4.
[Am J Hum Genet. 2000]
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Genetic study of indirect inguinal hernia.
Gong Y, Shao C, Sun Q, Chen B, Jiang Y, Guo C, Wei J, Guo Y.
J Med Genet. 1994 Mar; 31(3):187-92.
[J Med Genet. 1994]
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Absence of linkage between familial neural tube defects and PAX3 gene.
Chatkupt S, Hol FA, Shugart YY, Geurds MP, Stenroos ES, Koenigsberger MR, Hamel BC, Johnson WG, Mariman EC.
J Med Genet. 1995 Mar; 32(3):200-4.
[J Med Genet. 1995]