9号染色体短臂三体并伴有9号染色体短臂等臂染色体。
Trisomy 9p with an isochromosome of 9p.
作者信息
Smith G, McCaa A, Kelly T E
出版信息
Hum Genet. 1978 May 16;42(1):93-7. doi: 10.1007/BF00291631.
PMID:649175
Abstract
An 18 1/2-year-old female is described with moderately severe mental retardation, the phenotype of the trisomy 9p syndromy, and an isochromosome for the short arm of a chromosome 9, contained in an unique karyotype, 46,XX,-9,t(7q9q),+ iso 9p.
摘要
一名18岁半的女性，患有中度严重智力发育迟缓，具有9号染色体短臂三体综合征的表型，其核型为46,XX,-9,t(7q9q),+iso 9p，其中包含一条9号染色体短臂的等臂染色体。
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