Fibular hypoplasia and complex brachydactyly (Du Pan Syndrome) in an inbred Pakistani kindred
- 1 July 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 36 (3) , 292-296
- https://doi.org/10.1002/ajmg.1320360309
Abstract
A Pakistani kindred comprising 7 generations contained 7 men and 2 women with fibular hypoplasia and complex brachydactyly (syn: Du Pan syndrome). Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance. The average inbreeding coefficient (F) for the affected persons was found to be significantly greater than that for unaffected persons in the pedigree and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.Keywords
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