Silahtaroglu A N, Hacihanefioglu S, Yilmaz S, Tarkan Y, Cenani A, Tümer Z
Division of Biomedical Sciences, Cerrahpasa Medical Faculty, Istanbul University, Turkey.
Clin Genet. 1995 May;47(5):270-3. doi: 10.1111/j.1399-0004.1995.tb04310.x.
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.
对一名患有中度智力障碍和畸形特征的女孩进行细胞遗传学分析，结果显示其核型为46,XX/47,XX,+mar。使用染色体特异性α卫星探针进行荧光原位杂交表明，额外的标记染色体源自X染色体。据我们所知，这是首例报道的女性患者嵌合体，其额外的小标记染色体源自X染色体，因此为X染色体臂间区域三体性的嵌合体。
