15号染色体长臂部分三体：1例患者报告及文献复习
Partial trisomy 15q: report of a patient and literature review.
作者信息
Chandler K, Schrander-Stumpel C T, Engelen J, Theunissen P, Fryns J P
机构信息
Division of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
出版信息
Genet Couns. 1997;8(2):91-7.
PMID:9219006
Abstract
We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.
摘要
我们报告了一名患有严重发育迟缓、脊柱侧弯和轻度畸形的女孩。她被发现15号染色体长臂存在部分重复。经过额外的原位杂交后，得以进行精确的细胞遗传学诊断。得出核型为46,XX,dup(15)(pter→q26.3::q24→qter)。我们将她的数据与文献进行了比较。未发现特定的表型。
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