Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

AUTOR(ES)

Van Hemel, J O

RESUMO

We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.

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