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Eur J Med Genet. 2009 Jan-Feb;52(1):59-61. doi: 10.1016/j.ejmg.2008.11.003. Epub 2008 Nov 19.

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.

Abstract

We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.1-->pter.

PMID:
19049908
DOI:
10.1016/j.ejmg.2008.11.003
[Indexed for MEDLINE]

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