9号染色体短臂部分单体性：一种独特的临床实体。
Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.
作者信息
Deroover J, Fryns J P, Parloir C, Haegeman J, van den Berghe H
出版信息
Hum Genet. 1978 Oct 31;44(2):195-200. doi: 10.1007/BF00295414.
PMID:730163
Abstract
A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.
摘要
报道了一名10岁女孩，其9号染色体短臂部分缺失；核型为：46,XX,del(9)(p22)。该综合征导致一种独特的颅面畸形，表现为三角头畸形和相对的面中部发育不全。在本例中，9p部分单体性是由父源性新生生殖细胞缺失所致。
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