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

โœ Scribed by Briault, Sylvain; Odent, Sylvie; Lucas, Josette; Le Merrer, Martine; Turleau, Catherine; Munnich, Arnold; Moraine, Claude

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
16 KB
Volume
86
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3

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โœฆ Synopsis

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. Am. J. Med. Genet. 86:112-114, 1999.

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