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Deletion 22q11.2: Report of a complex meiotic mechanism of origin

✍ Scribed by Sintia Iole Nogueira; April M. Hacker; Fernanda T. S. Bellucco; Leslie Domenici Kulikowski; Denise Maria Christofolini; Mirlene C. Cernach; Maria Isabel Melaragno; Beverly S. Emanuel

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 139 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31834

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✦ Synopsis

Abstract

We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events. © 2007 Wiley‐Liss, Inc.

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