Outcome of prenatally diagnosed trisomy 6 mosaicism |
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| Authors: | Robert Wallerstein Tracey Oh Judy Durcan Yaakov Abdelhak Mark Clachko Hana Aviv |
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| Institution: | 1. Genetics Service, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ, USA;2. Department of Obstetrics and Gynecology, Hackensack University Medical Center, Hackensack, NJ, USA;3. Center for Human and Molecular Genetics, New Jersey Medical School, Newark, NJ, USA |
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| Abstract: | We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | trisomy 6 mosaicism amniocentesis |
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