Unusual phenotype in partial trisomy 14.
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.
Lemire
E G
EG
Department of Pediatrics, University of Saskatchewan and Royal University Hospital, Saskatoon, Canada. edmond.lemire@usak.ca
Cardwell
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S
D000328:Adult; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy