9号染色体短臂从头三体导致至q13。
De novo trisomy 9pter leads to q13.
作者信息
Kardon N B, Salwen H R, Krauss M A, Davis J G, Jenkins E C
出版信息
Hum Genet. 1977 Jun 30;37(2):149-53. doi: 10.1007/BF00393577.
PMID:885535
Abstract
A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter leads to q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain clinical abnormalities are due to trisomy of 9q1.
摘要
观察到一例新发9号染色体短臂三体病例。对G显带、R显带、Q显带和C显带标本进行细胞遗传学分析，结果显示核型描述为47,XY,+del(9)(pter→q13)。除了9号染色体短臂三体综合征的主要特征外，该患儿还存在骨骼和泌尿生殖系统异常。某些临床异常似乎是由于9q1三体所致。
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