Noonan's and DiGeorge syndromes with monosomy 22q11.
case_report · Level V
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- Record sourced from PubMed, PMID 8481040.
- Also identified by PMC identifier 1029231.
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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.
Medical subject headings
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Monosomy
- Noonan Syndrome