Levy B, Gershin I F, Desnick R J, Babu A, Gelb B D, Hirschhorn K, Cotter P D
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, USA.
Cytogenet Cell Genet. 1997;76(1-2):68-71. doi: 10.1159/000134518.
Fluorescence in situ hybridization (FISH) has proven useful for the identification of chromosomal material of unknown origin. More recently, comparative genomic hybridization (CGH) has been used to identify deletions and amplifications, particularly in neoplastic samples. Here, we describe the combined use of CGH and FISH to identify the origin of a de novo unbalanced translocation in a newborn with multiple congenital anomalies. GTG banding of metaphases from cultured lymphocytes showed an unbalanced karyotype, with extra material on a chromosome 5: 46,XX,add(5)(q35). Parental karyotypes were both normal. CGH revealed the additional material was from distal 11q (11q23-->'qter). This finding was confirmed by FISH with a whole chromosome paint for chromosome 11. Based on the CGH and FISH analyses, the proband's karyotype was therefore 46,XX,der(5)t(5;11)(q35.2; q23.2).ish der(5)(wcp11+). This case demonstrates the efficient use of CGH and confirmatory FISH for the identification of chromosomal material of unknown origin.
荧光原位杂交（FISH）已被证明在鉴定来源不明的染色体物质方面很有用。最近，比较基因组杂交（CGH）已被用于鉴定缺失和扩增，特别是在肿瘤样本中。在此，我们描述了联合使用CGH和FISH来鉴定一名患有多种先天性异常的新生儿中一条新发不平衡易位的起源。对培养淋巴细胞中期的GTG显带显示核型不平衡，5号染色体上有额外物质：46,XX,add(5)(q35)。父母的核型均正常。CGH显示额外物质来自11号染色体远端（11q23→qter）。用11号染色体全染色体涂染探针进行FISH证实了这一发现。基于CGH和FISH分析，先证者的核型因此为46,XX,der(5)t(5;11)(q35.2; q23.2)。ish der(5)(wcp11+)。该病例证明了CGH和确证性FISH在鉴定来源不明的染色体物质方面的有效应用。
