Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females
1995
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 {open_quotes}critical region{close_quotes} at Xq13-q26. 15 refs., 3 figs.
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