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. 1993 Feb;68(2):187–189. doi: 10.1136/adc.68.2.187

Noonan's and DiGeorge syndromes with monosomy 22q11.

D I Wilson 1, S B Britton 1, C McKeown 1, D Kelly 1, I E Cross 1, S Strobel 1, P J Scambler 1
PMCID: PMC1029231  PMID: 8481040

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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