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Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

✍ Scribed by Angle, Brad; Yen, Frank; Cole, Cameron W.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 31 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990521)84:2<132::aid-ajmg9>3.0.co;2-t

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✦ Synopsis

We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance. Am. J. Med. Genet. 84:132-136, 1999.

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