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Noonan's and DiGeorge syndromes with monosomy 22q11.
  1. D I Wilson,
  2. S B Britton,
  3. C McKeown,
  4. D Kelly,
  5. I E Cross,
  6. S Strobel,
  7. P J Scambler
  1. Department of Human Genetics, Newcastle upon Tyne.

    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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