Noonan's and DiGeorge syndromes with monosomy 22q11

Arch Dis Child. 1993 Feb;68(2):187-9. doi: 10.1136/adc.68.2.187.

Abstract

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Child, Preschool
  • Chromosomes, Human, Pair 22* / chemistry
  • DiGeorge Syndrome / genetics*
  • Humans
  • Male
  • Monosomy*
  • Noonan Syndrome / genetics*