一名患有dir dup(2)(q33.1q35)的患者出现2q部分三体。
Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
作者信息
Romain D R, Mackenzie N G, Moss D, Columbano-Green L M, Smythe R H, Parfitt R G, Dixon J W
机构信息
Central Regional Genetics Service, Wellington Hospital, New Zealand.
出版信息
J Med Genet. 1994 Aug;31(8):652-3. doi: 10.1136/jmg.31.8.652.
A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowledge this is the first report of trisomy for this specific segment of 2q and only the sixth case of de novo direct duplication of 2q, one of which was mosaic. Clinical features include epicanthus, clinodactyly, scoliosis, broad, flat nasal bridge, thin upper lip, long philtrum, and short neck.
本文描述了一名22岁的女性，其2号染色体长臂存在部分三体现象。核型为46,XX，dir dup(2)(q33.1q35)，通过使用2号染色体特异性探针的荧光原位杂交（FISH）技术得以确诊为新发突变。双亲的染色体研究结果正常。据我们所知，这是关于2q这一特定区段三体现象的首例报告，也是2q新发直接重复的第六例病例，其中一例为嵌合体。临床特征包括内眦赘皮、小指内弯、脊柱侧弯、鼻梁宽且扁平、上唇薄、人中长以及颈部短。
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