9号染色体长臂/13号染色体长臂易位导致重复（9号染色体短臂三体导致9号染色体长臂2区2带）和缺失（13号染色体短臂单体导致13号染色体长臂1区2带）。
Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12).
作者信息
Howard-Peebles P N, Yarbrough K M, Stoddard G R, Rary J M
出版信息
Clin Genet. 1977 Jan;11(1):46-52.
PMID:830449
Abstract
A profoundly retarded, 12-year-old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter leads to 9q22 and monosomic for 13pter leads to 13q12, as the result of adjacent-2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three generations.
摘要
本文描述了一名12岁的重度智力发育迟缓女性。她的表型与9号染色体短臂三体综合征的临床特征相符。细胞遗传学分析显示，由于其母亲减数分裂过程中发生相邻-2分离，她9号染色体短臂末端至9号染色体长臂2区2带三体，13号染色体短臂末端至13号染色体长臂1区2带单体。家系图谱显示这种（9；13）易位至少存在于三代人中。
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