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Article

Pure de novo partial trisomy 6p in a girl with craniosynostosis

10 Jan 2013

Abstract excerpt

Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of...

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Identifiers

PMID: 23307468
DOI: 10.1002/ajmg.a.35727

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