Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes

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• 作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com} ; Ming Chen^g ; ^h ; ⁱ ; Gwo-Chin Ma^g ; ^h ; Yi-Ning Su^j ; Tsang-Ming Ko^k ; Yi-Hui Lin^l ; Wayseen Wang^b ; ^m
• 关键词：array comparative genomic hybridization ; complex chromosome rearrangement ; cryptic genomic imbalance ; de novo apparently balanced reciprocal translocations
• 刊名：Journal of the Chinese Medical Association
• 出版年：2013
• 出版时间：January, 2013
• 年：2013
• 卷：76
• 期：1
• 页码：53-56
• 全文大小：507 K

文摘

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)¡Á3] 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.