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Interstitial deletion 2p11.2–p12: Further delineation

✍ Scribed by Karin Writzl; Luca Lovrečić; Borut Peterlin

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
125 KB
Volume
149A
Category
Article
ISSN
1552-4825

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## Abstract We report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inhe