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Article

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

17 Sept 2009

Abstract excerpt

Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1-q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small,...

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Share to Congenital Ear and Nasal Anomalies
Share to Congenital gastrointestinal and neural anomalies
Share to Genomic variations and chromosomal abnormalities

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Identifiers

PMID: 19764020
DOI: 10.1002/ajmg.a.33020

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