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Article

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.

BMC medical genetics - 18 Apr 2013

Dai Li, Deng Ying, Li Nana, Xie Liang, Mao Meng, Zhu Jun

Abstract excerpt

BACKGROUND: Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3). METHODS: Four patients and fourteen unaffected individuals from a four-generation Chinese pedigree with typical SHFM3 phenotypes were recruited for this study. After informed...

Topics

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Centromere
Chromosome Duplication
Chromosomes, Human, Pair 10
F-Box Proteins
Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Regulatory Sequences, Nucleic Acid

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Open in PubMed Open full text

Identifiers

PMID: 23596994
DOI: 10.1186/1471-2350-14-45
PMCID: PMC3637097

Genes

DPCD
LBX1
POLL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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