Clinical Manifestations of Chromosome 21 Interstitial Deletion: Report of Four Cases

第21號染色體間質性脫失症之臨床表徵：四病例報告

蘇本華(Pen-Hua Su) ； 陳家玉(Jia-Yuh Chen) ； 陳素珍(Suh-Jen Chen) ； 林麗玲(Li-Ling Lin)

《Acta Paediatrica Taiwanica》 47卷6期 (2006/12) Pp. 303-308

https://doi.org/10.7097/APT.200612.0303

摘要

第21號染色體是人類染色體中最小的一個，它包含了1.7%的人類基因組。第21號染色體長臂脫失症的病人會有多重異常的表現，而不同位置的脫失斷點也會有表現型的差異性。我們報告四個病例，其第21號染色體長臂q11.2-q22.1處有間質性脫失，所有病人均有輕微的智障，斜向外下的眼裂、長人中、突出且微開的口型，幼年時會有肌肉張力過度的表現，其中一個病人有蜘蛛膜囊腫、海洋性貧血及生長激素缺乏症。本文為台灣第一篇第21號染色體間質性脫失的報告。

關鍵字

脫失 ； 第21號染色體 ； 蜘蛛膜囊腫

並列摘要

Chromosome 21 is the smallest human chromosome; it contains 1.7% of the human genome, or about 54,000 kb. Multiple abnormalities have been observed in patients with a deletion of the long arm of chromosome 21. Phenotypic variability between cases involving different deletions of 21q have been described. We report four cases of deletion (21)(q11.2-q22.1). Three of the reported cases are familial, involving a mother and her two sons, and one is de novo. All cases had mild mental retardation, antimongolian slants, long philtrum, and protruding tongue as well as open mouth. Hypertonia was noted when each was young. Arachnoid cyst, cerebral dysfunction, thalassemia minor, and growth hormone deficiency were found in the de novo case. This is the first report of chromosomal deletion (21)(q11.2-q22.1) in the Taiwanese population.

並列關鍵字

Deletion ； chromosome 21 ； arachnoid cyst