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  • Title: Case of non-mosaic trisomy 20 in amniotic fluid cultures without anomalies in the fetus: cytogenetic discrepancy between amniocytes and fetal blood.
    Author: Maeda K, Imoto I, Kaji T, Yoshida Y, Nakayama S, Irahara M.
    Journal: J Obstet Gynaecol Res; 2015 Jan; 41(1):141-4. PubMed ID: 25164874.
    Abstract:
    We report a case of non-mosaic trisomy 20 detected prenatally by amniocentesis during the 16th week of pregnancy. Fetal blood sampling showed a normal karyotype and no fetal, neonatal or infant abnormalities were observed. Amniotic fluid cell karyotyping revealed a trisomy 20 (47,XY,+20) with 100% trisomic cells (38/38); however, a subsequent cordocentesis revealed a normal male karyotype. Moreover, a follow-up ultrasonographic examination did not reveal any major congenital malformations, and a healthy male infant was delivered subsequently at an appropriate gestational age without obvious anomalies. Cytogenetic analysis of blood lymphocytes from the infant revealed a normal karyotype, but cultured cells from the term placenta showed a mosaic karyotype 47,XY,+20/46,XY with 88% trisomic cells (44 of 50). Furthermore, no anomalies or developmental delays were observed in the neonatal period, thus suggesting two possibilities: confined placental mosaicism with the presence of normal and abnormal cell lineages, or generalized mosaicism affecting a limited number of tissues in both the placenta and fetus.
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