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Article

A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.

European journal of medical genetics - 1 Feb 2014

Luk H M, Wong Vincent C H, Lo Ivan F M, Chan Kelvin Y K, Lau Elizabeth T, Kan Anita S Y, Tang Mary H Y, Tang W F, She Wandy M K, Chu Yoyo W Y, Sin W K, Chung Brian H Y

Abstract excerpt

Copy number gain of 17p13.3 has been shown to be associated with developmental delay/autism and Split-Hand-Foot malformation. We report a case of fetus with bilateral split-hand malformation detected on prenatal ultrasound. Array comparative genomic hybridization detected 2 maternally inherited copy number gains in the 17p13.3 region with one of them involving the BHLHA9 gene and part of the YWHAE gene. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24380768
DOI: 10.1016/j.ejmg.2013.12.005

Genes

BHLHA9
YWHAE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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