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Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

✍ Scribed by Meena Balasubramanian; John C.K. Barber; Morag N. Collinson; Shuwen Huang; Viv K. Maloney; Dave Bunyan; Nicki Foulds

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 301 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32463

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## Abstract An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for