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

Authors
Briault, S Odent, S Lucas, J Le Merrer, M Turleau, C Munnich, A Moraine, C
Citation
S. Briault et al., Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome, AM J MED G, 86(2), 1999, pp. 112-114
Citations number
3
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
86
Issue
2
Year of publication
1999
Pages
112 - 114
Database
ISI
SICI code
0148-7299(19990910)86:2<112:PIOTXC>2.0.ZU;2-U
Abstract
FG; syndrome is an X-linked incomplete recessive condition comprising menta l retardation, congenital hypotonia, macrocephaly, a distinctive facial app earance, and constipation or anal malformations. Here, we report on a chrom osome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his men tally retarded maternal uncle, and we discuss the possible involvement of t his paracentric inversion in the FG syndrome. (C) 1999 Wiley-Liss, Inc.