Cri-du-chat syndrome.

Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Yen‐Jiun Chen, H. Kao, C. Yeung, Chyong-hsin Hsu, H. Chi
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引用次数: 4

Abstract

BACKGROUND Cri-du-chat syndrome is a genetic disorder associated with various sized deletions of the short arm of chromosome 5. There are typical physical features, but individual phenotypes vary considerably. METHODS The records of 23 patients with cri-du-chat syndrome admitted to Mackay Memorial Hospital from June 1984 to February 2006 were retrospectively reviewed. Data abstracted from the records included abnormal facial features and physical findings, results of echocardiography, bronchoscopy, auditory evoked potential, visual evoked potential, brain ultrasonography, and karyotype. We examined the various clinical phenotypes to see if there was an association with specific karyotypes. RESULTS Among congenital heart conditions, atrial septal defect (8/15, 53%) was the most common, followed by ventricular septal defect (4/15, 26%), tricuspid regurgitation (4/15, 26%) and patent ductus arteriosus (3/15, 20%). Laryngomalacia was the most frequent airway problem (8/23, 34%) and strabismus the commonest visual disorder (1/23). A high percentage of patients had impaired hearing (5/23, 21%). There was no clear relationship found between deletion size and major clinical manifestations in this study. CONCLUSIONS Karyotype is not a reliable indicator of specific organ involvement in cri-du-chat syndrome. However, karyotyping is still useful, particularly if parental translocation are found to be involved. It helps for prenatal diagnosis of next pregnancy.
Cri-du-chat综合症。
cri -du-chat综合征是一种遗传性疾病,与5号染色体短臂的各种大小缺失有关。有典型的身体特征,但个体表型差异很大。方法回顾性分析1984年6月至2006年2月麦凯纪念医院收治的23例cri-du-chat综合征患者的临床资料。从记录中提取的数据包括异常的面部特征和身体表现、超声心动图、支气管镜检查结果、听觉诱发电位、视觉诱发电位、脑超声检查和核型。我们检查了各种临床表型,看看是否有与特定核型的关联。结果先天性心脏病中以房间隔缺损(8/15,53%)最为常见,其次为室间隔缺损(4/15,26%)、三尖瓣反流(4/15,26%)和动脉导管未闭(3/15,20%)。喉软化是最常见的气道问题(8/ 23,34 %),斜视是最常见的视力障碍(1/23)。患者听力受损的比例较高(5/ 23,21 %)。本研究未发现缺失大小与主要临床表现之间的明确关系。结论染色体型不是判断cri-du-chat综合征特异性脏器受累的可靠指标。然而,核型分析仍然是有用的,特别是如果发现亲本易位有关。它有助于下次怀孕的产前诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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