Noonan's and DiGeorge syndromes with monosomy 22q11.

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.

journal_name

Arch Dis Child

authors

Wilson DI,Britton SB,McKeown C,Kelly D,Cross IE,Strobel S,Scambler PJ

doi

10.1136/adc.68.2.187

subject

Has Abstract

pub_date

1993-02-01 00:00:00

pages

187-9

issue

2

eissn

0003-9888

issn

1468-2044

journal_volume

68

pub_type

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