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題名 | Double Partial Monosomies (10p- and Xp-) in a Female Baby with Choanal Atresia=第十號及X染色體短臂缺損之雙重部分型單體症的後鼻孔閉鎖女嬰 |
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作者姓名(中文) | 侯家瑋; | 書刊名 | 長庚醫學 |
卷期 | 25:4 2002.04[民91.04] |
頁次 | 頁260-265 |
分類號 | 417.685 |
關鍵詞 | 單體症; 第十號染色體; X染色體; 後鼻孔閉鎖; Monosomy; Chromosome 10; Chromosome X; Choanal atresia; |
語文 | 英文(English) |
中文摘要 | 在同一細胞中出現兩個不同染色體缺損是相當罕見的,有一女嬰同時帶有非拼湊型,新突變的第十號及X染色體短臂缺損。症狀包括小頭症,輕度一字眉,短且外斜的眼臉裂,眼臉下垂,長睫毛,扁鼻樑,耳畸形,小下巴,短頸,神經性聽障,及嚴重的生長遲緩。她同時也被發現有喉頭軟化及左後鼻孔閉鎖症,但並沒有副甲狀腺機能低下或胸腺細胞免疫障礙之情況。以螢光性原位雜交法排除其它染色體異常或細微染色體轉位的可能。其臨床表徵除了部分與第十號染色體或X染色體短臂缺損有關外,後鼻孔閉及其它未被報告症狀可能是兩個不同染色體缺損間基因交互作用的結果。 |
英文摘要 | Chromosomal abnormalities involving double partial monosomies are very rate. A female infant with non-mosaic monosomy 10p13→10pter along with monosomy Xp11.4→Xpter which arose de novo is described. The clinical manifestations of this patient included microcephaly, mild synophrys, short and down-slanted palpebral fissures, ptosis of the left eye, long eyelashes, a depressed nasal bridge, dysplastic ears, micrognathia, a short neck, sensorineural hearing impairment, and severe growth retardation. Left choanal atresia and laryngomalacia were detected by flexible fibroscopy. No signs of hypoparathyroidism or defective cellular immunity could be found. Fluorescence in situ hybridization (FISH) with whole-chromosome painting probes for chromosomes 10 and X was performed, which excluded the possibility of cryptic translocations of the involved chromosome segments. No submicroscopic chromosome 22q11 deletion could be found by FISH. Thus this very rare coexistence of double independent partial monosomies was confirmed. There are no previous reports of such concurrent double partial monosomies. |
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