DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
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.
Wilson
T A
TA
Department of Pediatrics, State University of New York, Stony Brook 11794-8111.
Blethen
S L
SL
Vallone
A
A
Alenick
D S
DS
Nolan
P
P
Katz
A
A
Amorillo
T P
TP
Goldmuntz
E
E
Emanuel
B S
BS
Driscoll
D A
DA
D000328:Adult; D002892:Chromosomes, Human, Pair 22; D003582:Cytogenetics; D004062:DiGeorge Syndrome / Q000209:etiology* / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D016640:Diabetes, Gestational / Q000188:drug therapy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D007668:Kidney / Q000002:abnormalities*; D010159:Palate / Q000002:abnormalities; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000188:drug therapy / Q000235:genetics
D007328:Insulin