Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
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.
Briault
S
S
Service de Génétique, CHU Bretonneau, Tours, France. briault@med.univ-tours.fr
Odent
S
S
Lucas
J
J
Le Merrer
M
M
Turleau
C
C
Munnich
A
A
Moraine
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D007446:Chromosome Inversion; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*