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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

✍ Scribed by Luis Fernández; Julián Nevado; María L. De Torres; Elena Mansilla; Elena Vallespín; Sixto García-Miñaúr; Rebeca Palomo; Lucía Deirós; Marta Cabrera; Elia Dina Galo; Pablo Lapunzina; Alicia Delicado


Book ID
115549420
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
637 KB
Volume
158A
Category
Article
ISSN
1552-4825

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## Communicated by Riccardo Fodde The 22q11.2 microdeletion syndrome is the most frequent microdeletion syndrome in humans, yet its genetic basis is complex and is still not fully understood. Most patients harbor a 3-Mb deletion (typically deleted region [TDR]), but occasionally patients with atypi