Document Detail

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
MedLine Citation:
PMID:  8291527     Owner:  NLM     Status:  MEDLINE    
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.
T A Wilson; S L Blethen; A Vallone; D S Alenick; P Nolan; A Katz; T P Amorillo; E Goldmuntz; B S Emanuel; D A Driscoll
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-24     Completed Date:  1994-02-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1078-82     Citation Subset:  IM    
Department of Pediatrics, State University of New York, Stony Brook 11794-8111.
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MeSH Terms
Chromosomes, Human, Pair 22
DiGeorge Syndrome / etiology*,  genetics
Diabetes Mellitus, Type 1 / complications,  drug therapy,  genetics
Diabetes, Gestational / drug therapy,  genetics
Face / abnormalities
Heart Defects, Congenital / genetics
Infant, Newborn
Insulin / therapeutic use
Kidney / abnormalities*
Palate / abnormalities
Pregnancy in Diabetics* / drug therapy,  genetics
Reg. No./Substance:

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