Am J Med Genet. 1999 Dec 3;87(4):294-6.

Unusual phenotype in partial trisomy 14.

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Department of Pediatrics, University of Saskatchewan and Royal University Hospital, Saskatoon, Canada. edmond.lemire@usak.ca

Abstract

An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and obesity. Imprinting of maternal chromosome 14 or disruption of one or more genes on chromosome 9 may be responsible for our patient's manifestations.

PMID:: 10588832; [PubMed - indexed for MEDLINE]

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Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes. [Am J Med Genet. 1999]
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Cited by 2 PubMed Central articles

Two cases of partial trisomy 4p and partial trisomy 14q. [Ann Lab Med. 2013]
Two cases of partial trisomy 4p and partial trisomy 14q.
Kim YH, Kim HS, Ryoo NH, Ha JS. Ann Lab Med. 2013 Jan; 33(1):69-74. Epub 2012 Dec 17.
Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature. [Curr Genomics. 2011]
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Dasouki MJ, Youngs EL, Hovanes K. Curr Genomics. 2011 May; 12(3):190-203.

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Unusual phenotype in partial trisomy 14.

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