患有索托斯综合征表型且有5:15易位的儿童。
Child with Sotos phenotype and a 5:15 translocation.
作者信息
Maroun C, Schmerler S, Hutcheon R G
机构信息
Department of Pediatrics, St. Joseph's Hospital and Medical Center, Paterson, NJ 07503.
出版信息
Am J Med Genet. 1994 Apr 15;50(3):291-3. doi: 10.1002/ajmg.1320500313.
PMID:8042674
Abstract
We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.
摘要
我们报告了一名患有索托斯综合征表型的4岁女孩，其5号染色体长臂与15号染色体长臂之间发生了新发平衡易位[46,XX,t(5,15)(q35;q22)]。我们认为5q35或15q22处的遗传物质与常染色体显性基因的表达之间存在关联。
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