4号染色体长臂（q21.3→q31.3）新发直接重复的细胞遗传学和分子鉴定
Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).
作者信息
Jeziorowska A, Ciesla W, Houck G E, Yao X L, Harris M S, Truszczak B, Skorski M, Jakubowski L, Jenkins E C, Kaluzewski B
机构信息
Department of Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.
出版信息
Am J Med Genet. 1993 Apr 1;46(1):83-7. doi: 10.1002/ajmg.1320460114.
We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.
我们报告了一名3岁男孩，患有中度发育迟缓、小头畸形以及耳朵、眼睑、嘴巴和拇指畸形。细胞遗传学分析显示染色体亚区域4（q21.3→q31.3）存在直接重复。通过使用染色体涂染探针进行荧光原位杂交（FISH）以及借助与假定重复的4号染色体区域内定位的DNA探针进行定量Southern杂交，对这种特定重排进行了确认。
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