猫叫综合征关键区域定位于5p15.2的D5S713-D5S18区域

CRITICAL REGION FOR CRI DU CHAT SYNDROME IS LOCATED IN 5p15.2, A REGION FLANKED BY DNA MARKERS D5S713 AND D5S18

猫叫综合征是由５号染色体短臂缺失引起的染色体缺失综合征。根据染色体综合征“关键区域”的概念，以及近１０年来对１０６例５ｐ缺失病例的临床诊断、细胞遗传学及分子遗传学分析，将猫叫综合征的关键区域定位于５ｐ１５．２，位于Ｄ５Ｓ７１３和Ｄ５Ｓ１８两个遗传标记之间的区域。为研究该病提供了遗传学资料。

The cri du chat syndrome(CDC, MIM 123450) is the most classic deletion syndrome associated with a deletion on the short arm of chromosome 5. Based on our concept about “critical region” for Down syndrome and data from 106 CDC cases diagnosed and analyzed by ourselves in the last decades, we propose the localization of the critical region for CDC to 5p15.2, a region flanked by DNA markers D5S713 and D5S18, with the clinical, cytongenetic and molecular evidences.