Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11) |
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| Authors: | I Lambert J Kemp J Jackson H Joyce S Mann A Kan Dr A Smith |
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| Institution: | 1. Cytogenetics Unit, Department of Genetics, Children's Hospital, Camperdown, NSW, Australia;2. Department of Obstetrics, Wagga Wagga Base Hospital, Wagga Wagga, NSW, Australia;3. Pathology Department, Children's Hospital, Camperdown, NSW, Australia |
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| Abstract: | 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. |
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| Keywords: | Congenital anomalies mosaic chromosome 14 duplication isodicentric chromosome 14 post-mortem study |
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