W. Fischer et al., Complete karyotype discrepancy between placental and fetal cells in a caseof ring chromosome 18, PRENAT DIAG, 21(6), 2001, pp. 481-483
Citations number
12
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
A case of complete karyotype discrepancy between cultured chorionic villi a
nd amniotic in addition to fetal cells is reported. Ring chromosome 18 acid
monosomy 18 mosaicism was detected after amniocentesis. The pregnancy was
terminated in the 23rd gestational week. Cytogenetic analysis of cultured u
mbilical cord tissue after termination confirmed the finding of ring chromo
some 18/monosomy 18 mosaicism. In cultured umbilical blood lymphocytes mono
somic cells 45,-18 were not detected and the karyotype was 46,XY,r(18). In
contrast, short-term and long-term cultured chorionic villi showed a normal
male karyotype of 46,XY. Ultrasonographic examination revealed amniotic ba
nd syndrome and scoliosis in the caudal region of the spine. Copyright (C)
2001 John Wiley & Sons, Ltd.