Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion

Article Abstract:

The locus of SHFM3 on 10q24 has been narrowed to a region of about 2 cM between D10S1147 and D10S1240. SHFM3 is a gene associated with split-hand/split-foot malformation (SHFM, also called ectrodactyly). An extended Turkish family with 18 affected members in four generations was studied. Anticipation is suggested by several cases in which the phenotype is more severe in the offspring of a mildly affected parent. Evidence has been found of biased transmission from affected fathers of SHFM3 alleles to offspring.

Abnormalities, Hand, Foot, Foot deformities

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Summary of second workshop on structural birth defects

Article Abstract:

Research on birth defects should focus on understanding the role that genes play in embryonic development. A list of research directions and technology resources discussed by attendees at a workshop on birth defects is included.

Research, Birth defects

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A second acromelanistic allelomorph at the Albino locus of the Mongolian gerbil

Article Abstract:

The Mongolian gerbil was studied with a focus on a second acromelanistic allelomorph at the albino locus.

Genetic aspects, Observations, Gerbils, Albinism

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