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An apparently nonsyndromic infant with the association of anorectal and cardiovascular anomalies and a 22q11 deletion

โœ Scribed by Rosti, Luca ;Bini, Roberta M. ;Giamberti, Alessandro ;Frigiola, Alessandro ;Carminati, Mario


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
31 KB
Volume
112
Category
Article
ISSN
0148-7299

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We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We r