Noonan's and DiGeorge syndromes with monosomy 22q11.
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.
Wilson
D I
DI
Department of Human Genetics, Newcastle upon Tyne.
Britton
S B
SB
McKeown
C
C
Kelly
D
D
Cross
I E
IE
Strobel
S
S
Scambler
P J
PJ
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*