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Am J Med Genet. 1993 Nov 15;47(7):1078-82.

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.

Author information

1
Department of Pediatrics, State University of New York, Stony Brook 11794-8111.

Abstract

We report on 2 infants with the DiGeorge anomaly born to diabetic mothers treated with insulin. Both infants had unilateral renal agenesis. One of the mothers has manifestations suggestive of velo-cardio-facial syndrome (VCFS). Cytogenetic studies on both patients and the mother with apparent VCFS were normal. Molecular studies utilizing probes from the DiGeorge critical region did not demonstrate a 22q11 microdeletion in either patient or the mother with apparent VCFS. We conclude that maternal diabetes is a pathogenetic factor in the DiGeorge anomaly, and infants of diabetic mothers who have this anomaly should also be screened for renal agenesis.

PMID:
8291527
DOI:
10.1002/ajmg.1320470729
[Indexed for MEDLINE]

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