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Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
- Source :
-
Gene . Oct2013, Vol. 529 Issue 1, p163-168. 6p. - Publication Year :
- 2013
-
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]
Details
- Language :
- English
- ISSN :
- 03781119
- Volume :
- 529
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Gene
- Publication Type :
- Academic Journal
- Accession number :
- 90093586
- Full Text :
- https://doi.org/10.1016/j.gene.2013.07.050