Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
作者信息
Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C
机构信息
Service de Génétique, CHU Bretonneau, Tours, France.
出版信息
Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3.
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.
摘要
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