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Unusual phenotype in partial trisomy 14

✍ Scribed by Lemire, Edmond G.; Cardwell, Sharon

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
15 KB
Volume
87
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991203)87:4<294::aid-ajmg2>3.0.co;2-s

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✦ Synopsis

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.

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