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A girl with duplication 9q34 syndrome

✍ Scribed by Katarzyna Gawlik-Kuklinska; Mariola Iliszko; Agnieszka Wozniak; Maria Debiec-Rychter; Iwona Kardas; Jolanta Wierzba; Janusz Limon

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 153 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31847

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✦ Synopsis

Abstract

We report on a 17‐year‐old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplication occurred de novo. The patient presented with dysmorphic features and notable psychomotor delays, manifestations similar to those described in other reported cases of duplication of 9q34‐qter. Due to late presentation and diagnosis, our patient was not evaluated and characterized until adolescence, when particular attention was paid to the development of secondary sexual characteristics, secondary amenorrhea and obesity. © 2007 Wiley‐Liss, Inc.

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