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Prenatal diagnosis and post‐mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)
Author(s) -
Lambert I.,
Kemp J.,
Jackson J.,
Joyce H.,
Mann S.,
Kan A.,
Smith A.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140617
Subject(s) - trisomy , mosaic , fetus , prenatal diagnosis , obstetrics , medicine , aneuploidy , pregnancy , biology , genetics , chromosome , history , gene , archaeology
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.