Placental mosaicism in a case of 46,XY, ?22, +t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis |
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Authors: | Nancy B Spinner PhD Zenon Gibas Rochelle Kline Bruce Berger Laird Jackson |
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Institution: | 1. Division of Medical Genetics, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A.;2. Depariment of Pediatrics. Albert Einstein Medical Center, Philadelphia. PA 19141. U.S.A.;3. Department of Obstetrics and Gynecology, Albert Einstein Medical Center, Philadelphia, PA 19141, U.S.A. |
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Abstract: | 46,XY, ?22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, but the placenta demonstrated a 46,XY,46,XY, ?22,+t(22;22) or i(22q) mosaicism, with 65 per cent of the cells being 46,XY. This case provides an example of placental mosaicism for a normal male karyotype, while the fetus demonstrated non-mosaic trisomy 22. |
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Keywords: | Cystic hygroma Placental mosaicism Trisomy 22 Isochromosome |
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