https://scholars.lib.ntu.edu.tw/handle/123456789/632926
標題: | Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes | 作者: | Chen, Chih-Ping MING CHEN Ma, Gwo-Chin Su, Yi-Ning TSANG-MING KO Lin, Yi-Hui Wang, Wayseen |
關鍵字: | array comparative genomic hybridization; complex chromosome rearrangement; cryptic genomic imbalance; de novo apparently balanced reciprocal translocations; UNCULTURED AMNIOCYTES; ANEUPLOIDY DIAGNOSIS; MENTAL-RETARDATION; REARRANGEMENTS; COMPLEX; BREAKPOINTS; PREGNANCY; DELETIONS; CGH | 公開日期: | 一月-2013 | 出版社: | ELSEVIER TAIWAN | 卷: | 76 | 期: | 1 | 起(迄)頁: | 53 | 來源出版物: | Journal of the Chinese Medical Association : JCMA | 摘要: | We present our experience of array comparative genomic hybridization (aCGH) characterization of two cases of prenatally detected de novo simple and complex apparently balanced reciprocal translocations. Amniocentesis of the first case revealed a complex chromosome rearrangement and a karyotype of 46,XY,t(5;8;6)(q11.2;p23.1;q22.32)dn. aCGH of amniocytes revealed no genomic imbalance. Ultrasound findings were unremarkable. The pregnancy was carried to term, and pediatric follow-ups were normal at 3 months of age. Amniocentesis of the second case revealed a simple reciprocal translocation and a karyotype of 46,XY,t(3;11)(q14;q23)dn. aCGH of amniocytes revealed a 1.32-Mb microduplication in chromosome 2p12 [arr cgh 2p12 (75,245,747-76,563,965)×3] encompassing the genes of TACR1, FAM176A, MRPL19, and C2orf3. Ultrasound findings were unremarkable. The pregnancy was carried to term, and the pediatric follow-ups were normal at 8 months of age. In cases of prenatally detected de novo apparently balanced reciprocal translocations, cryptic intrachromosomal rearrangements may exist in addition to the cytogenetically visible structural chromosome aberrations. aCGH is useful not only in identifying the genomic imbalances at the breakpoints, but also in detecting unexpectedly complex rearrangements in other chromosomes. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/632926 | ISSN: | 1726-4901 | DOI: | 10.1016/j.jcma.2011.10.016 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。