Noonan's and DiGeorge syndromes with monosomy 22q11.

AUTOR(ES)

Wilson, D I

RESUMO

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.

Documentos Relacionados

• Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
• Features of Turner's and DiGeorge's syndromes with X;22 translocation.
• Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
• Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.
• DiGeorge syndrome: part of CATCH 22.