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De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3)

✍ Scribed by Anne Chun-Hui Tsai; Marcie DiGiovanni; Carol Walton; Philip D. Cotter

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 83 KB
Volume: 134A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30555

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## Abstract A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chro