title: Noonan's and DiGeorge syndromes with monosomy 22q11.
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.
authors: Department of Human Genetics, Newcastle upon Tyne.
authors: D I
authors: DI
authors: Wilson
authors: S B
authors: SB
authors: Britton
authors: C
authors: C
authors: McKeown
authors: D
authors: D
authors: Kelly
authors: I E
authors: IE
authors: Cross
authors: S
authors: S
authors: Strobel
authors: P J
authors: PJ
authors: Scambler
mesh_terms: D015139:Blotting, Southern; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000737:chemistry; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009006:Monosomy; D009634:Noonan Syndrome / Q000235:genetics*