Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 17, Pages 2019-2023Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31847
Keywords
duplication 9q34; mental retardation; obesity; secondary amenorrhea
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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. (c) 2007 Wiley-Liss, Inc.
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