DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

Am J Med Genet. 1993 Nov 15;47(7):1078-82. doi: 10.1002/ajmg.1320470729.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 22
  • Cytogenetics
  • DiGeorge Syndrome / etiology*
  • DiGeorge Syndrome / genetics
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / drug therapy
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes, Gestational / drug therapy
  • Diabetes, Gestational / genetics
  • Face / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin / therapeutic use
  • Kidney / abnormalities*
  • Palate / abnormalities
  • Pregnancy
  • Pregnancy in Diabetics* / drug therapy
  • Pregnancy in Diabetics* / genetics

Substances

  • Insulin