因家族性5/13相互易位导致的13号染色体长臂部分远端三体性
Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation.
作者信息
Yanagisawa S, Yokoyama H, Agena N
出版信息
Hum Genet. 1978 Dec 29;45(3):345-50. doi: 10.1007/BF00278733.
PMID:738734
Abstract
A female infant with partial trisomy 13, 46,XX,der(5),t(5;13) (p15;q22)mat, for the distal part of the long arm is reported. The clinical and autopsy findings were similar to those of complete trisomy 13, except for harelip and cleft palate, and sloping forehead. Fetal hemoglobin and nuclear appendages in polymorphonuclear leukocytes were normal. Loci for these traits are discussed.
摘要
报道了一名患有13号染色体部分三体的女婴，核型为46,XX,der(5),t(5;13)(p15;q22)mat，为长臂远端部分三体。临床和尸检结果与完全性13号染色体三体相似，除了唇裂和腭裂以及前额倾斜。胎儿血红蛋白和多形核白细胞中的核附属物正常。讨论了这些性状的基因座。
Zotero 插件