摘要
背景：貓哭症是由第五號染色體的短臂，有不等大的缺失所造成的染色體疾患，他們有典型的臨床特徵，但是個別的表現型還是因人而異。 方法：自1984至2006年，在馬偕醫院無論住院或門診的病人當中，以染色體檢查確定爲第五對染色體缺失的患者，皆納入此項研究當中，總共有23病例，此爲一回溯性研究。我們所蒐集的紀錄資料當中包括了不正常的臉部特徵和外觀的發現以及各項檢查的結果，包括超音波，內視鏡，聽覺和視覺的誘發電位，及核型的分析。我們檢視各項臨床的特徵去觀察其和特別的核型是否有相關。 結果：在先天性心臟病中，心房中膈缺損則是最常見(8/15, 53%)，之後依序才是心室中膈缺損(4/15, 26%)，三尖瓣逆流(4/15, 26%)和動脈導管(3/15, 20%)。軟喉症是最常見的呼吸道的問題(8/23, 34%)，而斜視則是最常見的眼部疾患(1/23)。高比例的病人有聽覺上的障礙(5/23，21%)。在本研究中發現，基因缺失的大小和臨床上重大器官缺陷之表現，並非成正比，但是因研究個案有限，其相關性仍需作進一步整合和探討。 結論：雖然染色體斷落的大小和器官缺陷的嚴重性不一定成正比，但父母親的染色體檢查仍楚必要的，因某些平衡性轉位的發現，可幫助作爲下一胎產前疾病的診斷。
並列摘要
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.
延伸閱讀
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