X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred

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...

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Bibliographic Details
Published in:Human genetics 1987-02, Vol.75 (2), p.169-173
Main Authors: MAHMUD AHMAD, HASAN ABBAS, SAYEDUL HAQUE, FLATZ, G
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Biological and medical sciences
Diseases of the osteoarticular system
Female
Foot - diagnostic imaging
Foot Deformities, Congenital
Genetic Linkage
Hand - diagnostic imaging
Hand Deformities, Congenital
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Pakistan
Pedigree
Radiography
X Chromosome
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00591081