Speleman F, Van der Auwera B, Mangelschots K, Vercruyssen M, Raap T, Wiegant J, Craen M, Leroy J
Department of Medical Genetics, University Hospital, Gent, Belgium.
Hum Genet. 1990 Oct;85(6):569-75. doi: 10.1007/BF00193576.
In two female patients with a 45,X/46,X, +mar karyotype the marker chromosomes were identified as normal length nonfluorescent Y chromosomes (nlYnf) using non-isotopic in situ hybridization (NISH) complementary to routine cytogenetic analysis and Southern hybridization. The recognition of the nlYnf as isodicentric in both patients illustrates and confirms the usefulness and importance of NISH in the identification and characterization of this and many other types of complex chromosome rearrangements.
在两名核型为45,X/46,X, +mar的女性患者中,通过与常规细胞遗传学分析和Southern杂交互补的非同位素原位杂交(NISH),将标记染色体鉴定为正常长度的非荧光Y染色体(nlYnf)。两名患者中nlYnf均为等臂双着丝粒染色体,这说明了并证实了NISH在鉴定和表征此类及许多其他类型复杂染色体重排中的实用性和重要性。