1. Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
- Author
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Chen, Chih-Ping, Tsai, Chin-Han, Chern, Schu-Rern, Wu, Peih-Shan, Su, Jun-Wei, Lee, Chen-Chi, Chen, Yu-Ting, Chen, Wen-Lin, Chen, Li-Feng, and Wang, Wayseen
- Subjects
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PRENATAL diagnosis , *CYTOGENETICS , *CHROMOSOME abnormalities , *ANXIETY , *CHROMOSOME duplication , *AMNIOCENTESIS complications , *WOMEN patients - Abstract
Abstract: We present prenatal diagnosis and molecular cytogenetic characterization of de novo mosaic r(13). A 32-year-old woman underwent amniocentesis at 18weeks of gestation because of maternal anxiety. Amniocentesis revealed a karyotype of 46,XY,r(13)[33]/45,XY,-13[19]. aCGH on uncultured amniocytes at repeated amniocentesis detected a 4.22-Mb deletion at 13q34. Interphase FISH on 100 uncultured amniocytes showed the ratio of r(13):-13:idic r(13) as 85%:13%:2%. The cord blood had a karyotype of 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]. The placenta had a karyotype of 46,XY,mar(13)[31]/45,XY,-13[3]. Metaphase FISH confirmed that the marker chromosomes in placenta were derived from chromosome 13. aCGH on cultured placental cells detected a 77.81-Mb deletion at 13q13.3–q34. The fetus postnatally manifested facial dysmorphism. Prenatal diagnosis of r(13) should alert mosaicism for deletion/duplication of r(13) and distal 13q deletion. Fetoplacental chromosomal discrepancy of r(13) may exist in case of mosaic r(13) detected by amniocentesis. [Copyright &y& Elsevier]
- Published
- 2013
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