Sreekantaiah C, Kronn D, Marinescu R C, Goldin B, Overhauser J
Department of Pathology, New York Medical College, Valhalla, New York 10595, USA.
Am J Med Genet. 1999 Sep 17;86(3):264-8.
We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted duplication of the 5p region. The abnormality was confirmed and further defined by detailed FISH analysis using cosmid and lambda phage clones previously mapped to distinct regions of 5p. The analyses documented deletion of 5p15.3-->pter and an inverted duplication of 5p14-->5p15.3. The deleted segment on 5p contains the region implicated in the isolated catlike cry feature of the cri-du-chat syndrome, confirming that the genes involved in the catlike cry map to the distal end of 5p. Except for the catlike cry and possibly the developmental delay that may be due to the deletion of 5p, the duplication of 5p14-->5p15.3 in this patient did not present with additional anomalies. This study further demonstrates the usefulness of the molecular cytogenetic approach for characterizing complex chromosome rearrangements. Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis.
我们报告了一名4岁女孩的临床、细胞遗传学和分子细胞遗传学研究结果，该女孩因发育迟缓及自出生起就有猫叫样哭声而接受评估。未发现其他猫叫综合征的表现。核型分析显示5p区域存在新发缺失及倒位重复。使用先前定位到5p不同区域的黏粒和λ噬菌体克隆进行详细的荧光原位杂交（FISH）分析，证实并进一步明确了该异常情况。分析记录了5p15.3→pter的缺失以及5p14→5p15.3的倒位重复。5p上缺失的片段包含与猫叫综合征孤立的猫叫样哭声特征相关的区域，证实与猫叫样哭声相关的基因定位于5p的远端。除了猫叫样哭声以及可能因5p缺失导致的发育迟缓外，该患者5p14→5p15.3的重复未伴有其他异常。本研究进一步证明了分子细胞遗传学方法在表征复杂染色体重排方面的实用性。对仅有猫叫样哭声的患者进行此类分析可避免对猫叫综合征的错误诊断，因为猫叫综合征的预后更为严重。
