Unusual phenotype in partial trisomy 14. [Am J Med Genet. 1999]

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

Unusual phenotype in partial trisomy 14.

Lemire EG, Cardwell S.

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

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. Copyright 1999 Wiley-Liss, Inc.

PMID: 10588832 [PubMed - indexed for MEDLINE]

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes.
Am J Med Genet. 1999 May 21; 84(2):132-6.

[Am J Med Genet. 1999]
Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.
Am J Med Genet. 2002 Apr 22; 109(2):125-32.

[Am J Med Genet. 2002]
Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
Genet Couns. 2005; 16(1):59-63.

[Genet Couns. 2005]
ReviewRecombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.
Am J Med Genet A. 2005 Apr 30; 134(3):309-14.

[Am J Med Genet A. 2005]
ReviewTwo cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
J Med Genet. 1998 Jul; 35(7):604-8.

[J Med Genet. 1998]
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