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Article

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.

American journal of medical genetics - 22 Dec 1999

Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu A N

Abstract excerpt

Triphalangeal thumb-polysyndactyly (TPT-PS) is an isolated limb malformation consisting of pre- and postaxial polysyndactyly of hands and feet. The only family reported so far is of Dutch origin, and the genetic mapping study localized the TPT-PS locus at chromosome region 7q36 where the isolated triphalangeal thumb (TPT) anomaly has also been mapped. It was suggested that TPT-PS is a phenotypic variation of...

Topics

Chromosomes, Human, Pair 7
DNA Mutational Analysis
Facies
Female
Foot Deformities, Congenital
Genetic Markers
Hand Deformities, Congenital
Humans
Male
Middle Aged
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polydactyly

Radiography

Syndactyly

Syndrome

Thumb

X-Rays

Source

Identifiers

PMID: 10594878

Provenance

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Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.PMID 10594878Read ↗

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A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.Semantic proximity Read ↗

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