Levy Brynn, Dunn Teresa M, Kern Jeffrey H, Hirschhorn Kurt, Kardon Nataline B
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
Am J Med Genet. 2002 Mar 15;108(3):192-7. doi: 10.1002/ajmg.10261.
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.
一名女婴出现多种先天性异常及独特的猫叫样哭声。她的核型为46,XX,add5p。对母亲进行的染色体分析显示5号染色体存在明显的臂间平衡倒位，通过GTG显带无法清晰辨别断点的确切位置，核型为46,XX,inv(5)(p15.2/3?q35.1?)。使用市售的猫叫综合征探针（D5S721、D5S23）进行荧光原位杂交（FISH）研究，结果显示在正常染色体和衍生染色体上均有信号。使用针对5p和5q的端粒探针来确认母亲的臂间倒位，并证实先证者存在5p末端区域缺失和5q末端区域重复。使用比较基因组杂交（CGH）进一步明确了患者5号染色体的失衡情况，结果显示5p15.3至pter区域物质缺失，5q34至qter区域物质增加。猫叫样哭声的出现似乎是与5p物质缺失相关的唯一特定特征。该婴儿其余的畸形特征似乎具体是由于5q序列重复所致。FISH、CGH和细胞遗传学相结合证实，猫叫综合征的特征性哭声是由于经典的5p缺失区域最远端部分的缺失所致。更重要的是，我们的研究已将5q34至qter区域重复定义为一种独特的临床表型。
