Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

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Title:	Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13
Authors:	陳持平;Chen, Chih-Ping;Chin-Han Tsai;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee;Yu-Ting Chen;Wen-Lin Chen;Li-Feng Chen;Wayseen Wang
Contributors:	生物科技學系
Keywords:	AFP;Amniocentesis;CNS;FISH;Fetoplacental chromosomal discrepancy;Marker chromosome;Mosaicism;OMIM;Online Mendelian Inheritance in Man;Ring chromosome 13;aCGH;array comparative genomic hybridization;central nervous system;del;deletion;fluorescence in situ hybridization;idic;isodicentric chromosome;mar;marker chromosome;r;ring chromosome;uE3;unconjugated estriol;α-fetoprotein;β-hCG;β-human chorionic gonadotrophin
Date:	2013-10
Issue Date:	2013-12-06 06:44:38 (UTC+0)
Abstract:	We present prenatal diagnosis and molecular cytogenetic characterization of de novo mosaic r(13). A 32-year-old woman underwent amniocentesis at 18 weeks 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.
Relation:	GENE,529(1):163-168.
Appears in Collections:	[Department of Biotechnology] Journal Article

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