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Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome

✍ Scribed by Stalker, Heather J. ;Aymé, Ségolène ;Delneste, Daniele ;Scarpelli, Hélène ;Vekemans, Michel ;Der Kaloustian, Vazken M.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 585 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450412

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✦ Synopsis

We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q1, and the "trisomy 9q syndrome" described by Turleau et al. [1975].

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