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Am J Med Genet. 1999 Sep 10;86(2):112-4.

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

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1
Service de Génétique, CHU Bretonneau, Tours, France. briault@med.univ-tours.fr

Abstract

FG syndrome is an X-linked incomplete recessive condition comprising mental retardation, congenital hypotonia, macrocephaly, a distinctive facial appearance, and constipation or anal malformations. Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his mentally retarded maternal uncle, and we discuss the possible involvement of this paracentric inversion in the FG syndrome.

PMID:
10449643
[Indexed for MEDLINE]
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