[Minute chromosome rearrangement detected by human telomeric band painting probes].
In order to assess the value of applying human chromosomal telomeric band painting probes (TBPs) in genetic diagnosis, we used three human telomeric band painting probes in fluorescence in situ hybridization (FISH) to analyze two cases who had a history of habitual abortion and were suspected to carrying a minute translocation. The probes were prepared by microdissection, and the covered regions were 11q23.3-->qter12q24.1-->qter and 22q13.1-->qter, respectively. According to the FISH results, both the cases were cryptic minute translocation carriers. The involved chromosomes were chromosome 11 and 12 in case 1, and chromosome 11 and 22 in case 2. Combined with chromosome G banding, their breakpoints were 11q23.3, 12q24.1, and 22q13.1, respectively. The results showed that the telomeric band painting probes can be used as a tool to determine minute chromosomal abnormality and the precise breakpoints.
Qian
Wei-Ping
WP
Institute of Reproduction and Stem Cell Engineering, Xiang-Ya School of Medicine, Central South University, Changsha 410078, China. qianweipingsz@126.com
Tan
Yu-Mei
YM
Tan
Yue-Qiu
YQ
Song
Dan
D
Xu
Xiao-Qing
XQ
Li
Lu-Yun
LY
Lu
Guang-Xiu
GX
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D020223:Chromosome Painting; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic