由于21号环状染色体导致的表观21号染色体单体性：通过DNA分析揭示亲本来源
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.
作者信息
Dalgleish R, Duckett D P, Woodhouse M, Shannon R S, Young I D
机构信息
Department of Genetics, University of Leicester.
出版信息
J Med Genet. 1988 Dec;25(12):851-4. doi: 10.1136/jmg.25.12.851.
A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.
本文报告了一名3岁半的轻度智力发育迟缓男孩。对两份淋巴细胞培养物中检查的所有50个中期分裂相进行核型分析，结果显示为21号染色体单体（45,XY,-21），在培养的成纤维细胞检查的细胞中，20%显示同样结果；其余80%的细胞显示21号环状染色体（46,XY,r(21)(p1q22]。使用21号染色体特异性DNA探针进行的分子研究证实血液中存在单体，并表明21号环状染色体源自父亲。父母的核型均正常。
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