De novo direct duplication of 15q15→q24 in a newborn boy with mild manifestations
De novo direct duplication of 15q15→q24 in a newborn boy with mild manifestations
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DOI：
10.1002/(sici)1096-8628(19991222)87:5
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发表时间：
1999-12-22
期刊：
影响因子：
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通讯作者：
Shaffer, LG
中科院分区：
文献类型：
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作者：
Han, JY;Kim, KH;Shaffer, LG
远端15q的重复导致可识别的临床表型，我们在这里报告了一个25天大的男孩，其染色体区域15q15-q24有新的间质性重复。本例患者的症状较既往患者轻，包括轻微的面部异常、腭咽功能不全、鳃裂囊肿和肾积水。采用15号染色体染色探针的荧光原位杂交（FISH）证实了额外的物质是15号染色体的来源。SNRPN探针进一步分析表明，重复是端粒在praper - willi /Angelman综合征的关键区域。本病例描述了复制15q综合征患者更广泛的谱系。点。中华医学杂志。87:395-398,1999。(C) 1999 Wiley-Liss, Inc。
Duplication of distal 15q results in a recognizable clinical phenotype, We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomalies, velopharyngeal insufficiency, branchial cleft cyst, and hydronephrosis, Fluorescence in situ hybridization (FISH) using a chromosome 15 painting probe confirmed that the extra material is of chromosome 15 origin. Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/Angelman syndrome critical region. This case delineates a broader spectrum for patients with duplication 15q syndrome. Am. J. Med. Genet. 87:395-398, 1999. (C) 1999 Wiley-Liss, Inc.