Case Reports
doi: 10.1136/adc.68.2.187.
Noonan's and DiGeorge syndromes with monosomy 22q11
Affiliations
- PMID: 8481040
- PMCID: PMC1029231
- DOI: 10.1136/adc.68.2.187
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Case Reports
Noonan's and DiGeorge syndromes with monosomy 22q11
Arch Dis Child.
1993 Feb.
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.
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