Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.
We describe a familial paracentric inversion (X)(q21.2 q24) in a family with 2 male and 2 female carriers. The males were mentally retarded and the females were normal with normal ovarian function. It is suggested that a recessive mental retardation (MR) gene was disrupted by one of the inversion breakpoints, although an X-linked MR gene which by chance is linked to the inv(X) could not be ruled out. In the female carriers of the paracentric inversion a random X-inactivation was demonstrated. The normal ovarian function is an exception to the concept of "critical region" at Xq13-q26.
Abeliovich
D
D
Department of Human Genetics, Hadassah Hebrew University Hospital, Hebrew University Hadassah Medical School, Jerusalem, Israel.
Dagan
J
J
Kimchi-Sarfaty
C
C
Zlotogora
J
J
D000293:Adolescent; D007446:Chromosome Inversion; D003638:Deafness / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010053:Ovary / Q000502:physiology; D010375:Pedigree; D014960:X Chromosome