X-Chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1987-02

AUTHORS

Mahmud ahmad, Hasan Abbas, Sayedul Haque, Gebhard Flatz

ABSTRACT

A Pakistani kindred comprising seven generations and 36 members with the split-hand/split-foot anomaly is described. The full expression of the trait, monodactylous or split hand and split foot, mainly of the lobster-claw type, was present in 33 males and 3 females. Other females showed a distinctly milder expression of the trait, usually in the form of partial syndactyly, metacarpal and phalangeal hypoplasia, and malformation. The distribution of the affected members in the pedigree is compatible with X-chromosomal inheritance. Hemizygous males and presumably homozygous females exhibit the typical split-hand/split-foot anomaly, whereas only a part of the obligatory heterozygous females show the milder expression. There were no associated anomalies, such as ectodermal dysplasia, cleft lip/palate, macular degeneration, malformations of the long bones or internal organs, and overt mental retardation. More... »

PAGES

169-173

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00591081

DOI

http://dx.doi.org/10.1007/bf00591081

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009551764

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/3817811


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