Delineation of the dup 5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (Cri du chat)
Delineation of the dup 5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (Cri du chat)
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DOI：
10.1002/ajmg.10261
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发表时间：
2002-03-15
期刊：
影响因子：
--
通讯作者：
Kardon, NB
中科院分区：
文献类型：
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作者：
Levy, B;Dunn, TM;Kardon, NB
一个女婴提出了多种先天性异常和独特的喵喵哭。核型为46，XX，add 5 p。母亲的染色体分析显示5号染色体臂间倒位明显平衡，断裂点的精确位置不能通过GTG显带清楚辨别，46，XX，inv（5）（p15.2/3？q35.1？）。荧光原位杂交（FISH）的研究，使用商业的cri du chat探针（D5 S721，D5 S23）显示信号的正常和衍生染色体。端粒探针特异性5 p和5 q被用来确认在母亲的臂间倒位，并证明了终端5 p区域的损失和重复的终端5 q区域的先证者。使用比较基因组杂交（CGH）进一步确定了患者5号染色体上的不平衡，显示5p15.3 --> pter的物质丢失和5 q34--> qter的物质增加。猫叫声的出现似乎是唯一与5便士材料丢失有关的具体特征。这个婴儿剩下的畸形特征似乎是由于5 q序列的重复。FISH、CGH和细胞遗传学的结合已经证实，Cri du Chat综合征的特征性哭泣是由于经典del 5 p区域的最远端部分的缺失。更重要的是，我们的研究已经将5 q34--> qter的重复定义为一种独特的临床表型。(C)2002 Wiley-Liss，Inc.
An infant girl presented with multiple congenital abnormalities and a distinctive mewing cry. Her karyotype was 46,XX,add5p. Chromosome analysis on the mother revealed an apparently balanced pericentric inversion of chromosome 5, with the precise position of the breakpoints not clearly discernable by GTG banding, 46,XX,inv(5) (p15.2/3?q35.1?). Fluorescence in situ hybridization (FISH) studies using a commercial cri du chat probe (D5S721,D5S23) revealed signals on both the normal and derivative chromosomes. Telomeric probes specific for 5p and 5q were used to confirm the pericentric inversion in the mother and demonstrated the loss of the terminal 5p region and a duplication of the terminal 5q region in the proband. The imbalance on chromosome 5 in the patient was further defined using comparative genomic hybridization (CGH), which revealed a loss of material from 5p15.3 --> pter and a gain of 5q34 --> qter. The presence of the cat-like cry appears to be the only specific feature that can be linked to the loss of 5p material. The remaining dysmorphic features of this infant appear to be due specifically to the duplication of the 5q sequences. The combination of FISH, CGH, and cytogenetics has confirmed that the characteristic cry of the cri du chat syndrome is due to the deletion of the most distal part of the classic del 5p region. More importantly, our investigation has defined the duplication of 5q34 --> qter as a distinct clinical phenotype. (C) 2002 Wiley-Liss, Inc.