Cremers F P, Pfeiffer R A, van de Pol T J, Hofker M H, Kruse T A, Wieringa B, Ropers H H
Hum Genet. 1987 Sep;77(1):23-7. doi: 10.1007/BF00284707.
An insertional translocation into the proximal long arm of the X chromosome in a boy showing muscular hypotony, growth retardation, psychomotor retardation, cryptorchidism, and Pelizaeus-Merzbacher disease (PMD) was identified as a duplication of the Xq21-q22 segment by employing DNA probes. With densitometric scanning for quantitation of hybridization signals, 15 Xq probes were assigned to the duplicated region. Analysis of the duplication allowed us to dissect the X-Y homologous region physically at Xq21 and to refine the assignments of the loci for DXYS5, DXYS12, DXYS13, DXS94, DXS95, DXS96, DXS111, and DXS211. Furthermore, we demonstrated the presence of two different DXYS13 and DXS17 alleles in genomic DNA of our patient, suggesting that the duplication resulted from a meiotic recombination event involving the two maternal X chromosomes.
在一名表现出肌张力减退、生长发育迟缓、精神运动发育迟缓、隐睾症和佩利措伊斯-梅茨巴赫病（PMD）的男孩中，通过使用DNA探针，确定了插入到X染色体近端长臂的易位是Xq21-q22节段的重复。通过密度扫描对杂交信号进行定量分析，将15个Xq探针定位到重复区域。对该重复的分析使我们能够在物理上剖析Xq21处的X-Y同源区域，并完善DXYS5、DXYS12、DXYS13、DXS94、DXS95、DXS96、DXS111和DXS211基因座的定位。此外，我们在患者的基因组DNA中证实存在两种不同的DXYS13和DXS17等位基因，这表明该重复是由涉及两条母源X染色体的减数分裂重组事件导致的。
