PRENATAL DETECTION OF DE-NOVO PARACENTRIC INVERSION-46, XX INV-(14) (Q22Q32.1) IN A NORMAL-CHILD - REPORT AND REVIEW OF THE LITERATURE

We present prenatal diagnosis and follow-up examination of an individu al with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inver sion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifest ed significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormal ities and 40% (2/5) of de novo cases had abnormalities. (C) 1993 Wiley -Liss, Inc.