Wang Hao, Wang Yan, Wu Lingfeng, Xie Lesi
Central Laboratory, Hangzhou First People's Hospital, Hangzhou, Zhejiang 310006, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):761-4. doi: 10.3760/cma.j.issn.1003-9406.2014.06.018.
To investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.
A combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).
The karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.
Clinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.
研究一名携带嵌合型21号环状染色体的30岁不孕女性的临床表型和遗传特征。
采用包括G显带、C显带、荧光原位杂交（FISH）和单核苷酸多态性阵列（SNP array）等技术组合，研究r(21)的断裂点。
患者的核型为mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4]。ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+)。arr 21q22.3(43 457 934-48 093 361)×1, 21q22.2q22.3(40 218 429-43 457 934)×1-2。其父母的核型均正常。
携带21号环状染色体患者的临床表型主要取决于异常细胞的比例和缺失的染色体片段。本例患者的子宫小和月经过少可能归因于嵌合型21号环状染色体。
