Gripenberg U, Hongell K, Iivanainen M, Kivimäki T
Ann Genet. 1977 Mar;20(1):36-40.
The karyotype 47,XX,+9p was observed in a 50-year-old mentally retarded woman with dysmorphic facies, severe cerebral malformations, limb deformities, retarded sexual maturation and deviating dermatoglyphs. Banding analysis showed the extra chromosome to be composed of 9p and the proximal part of 9q comprising a large secondary constriction. The breakage point is estimated as 9q13. Hemozygous large C bands were observed in both chromosomes No. 9 as well as in the extra chromosome. Clinically this case can be regarded as a pure 9p trisomy. The mechanism causing the syndrome is thought to be malsegregation of a deleted chromosome No. 9.
在一名50岁的智力发育迟缓女性中观察到核型为47,XX,+9p，该女性面部畸形、患有严重脑畸形、肢体畸形、性成熟延迟且皮纹异常。染色体显带分析显示额外的染色体由9p和9q的近端部分组成，其中9q的近端部分包含一个大的次缢痕。断裂点估计在9q13。在9号染色体以及额外的染色体中均观察到纯合的大C带。临床上，该病例可被视为单纯的9p三体。导致该综合征的机制被认为是9号缺失染色体的错误分离。
