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Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

✍ Scribed by Leichtman, Lawrence G.; Zackowski, Joleen L.; Storto, Patrick D.; Newlin, Anna

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 23 KB
Volume: 63
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960614)63:3<434::aid-ajmg4>3.0.co;2-r

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✦ Synopsis

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

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