We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregn...

Few cases have been reported in the literature. So far; karyotypes are usually complex. 14q11 abnormalities: very frequent, either as an inv(14)(q11q32) or as a translocation t(14;14)(q11;q32); another reported change involving 14q11 is a translocation t(X;14)(q28;q11), similar to the translocation observed in ataxia-telangectasia, involving the Mature T-cell Prolymphocyte 1 (MTCP1) gene locate...