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Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother

✍ Scribed by Urioste, M. ;Valcarcel, E. ;Gomez, M. A. ;Pinel, I. ;de León, R. Garcia ;de Bustamante, A. Diaz ;Tebar, R. ;Martinez-Frias, M. L.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 236 KB
Volume: 30
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320300408

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## Abstract The DiGeorge anomaly (DGA) is an etiologically heterogeneous developmental field defect in which cardiovascular malformations, hypocalcemia, thymic hypoplasia, and characteristic dysmorphisms are major clinical features. The 22q11.2 deletion is the most common single etiology of DGA, al