Rack K A, Harris P C, MacCarthy A B, Boone R, Raynham H, McKinley M, Fitchett M, Towe C M, Rudd P, Armour J A
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Am J Hum Genet. 1993 May;52(5):987-97.
We have analyzed three de novo chromosome 16 rearrangements--two with a 16p+ chromosome and one a 16q+--none of which could be fully characterized by conventional cytogenetics. In each case, flow karyotypes have been produced, and the aberrant chromosome has been isolated by flow sorting. The origin of the additional material has been ascertained by amplifying and labeling the DNA of the abnormal chromosome by degenerate-oligonucleotide-primer-PCR and hybridizing it in situ to normal metaphase spreads (reverse chromosome painting). Both 16p+ chromosomes contain more than 30 Mb of DNA from the short arm of chromosome 9(9p21.2-pter), while the 16q+ contains approximately 9 Mb of DNA from 2q37. The breakpoints on chromosome 16 have been localized in each case; the two breakpoints on the short arm are at different points within the terminal band, 16p13.3. The breakpoint on the long arm of chromosome 16 is very close to (within 230 kb of) the 16q telomere. Determination of the regions of monosomy and trisomy allowed the observed phenotypes to be compared with other reported cases involving aneuploidy for these regions.
我们分析了三种新发的16号染色体重排——两种为16p+染色体，一种为16q+——传统细胞遗传学均无法对其进行全面表征。在每种情况下，均已产生流式核型，并通过流式分选分离出异常染色体。通过简并寡核苷酸引物PCR扩增和标记异常染色体的DNA，并将其原位杂交至正常中期染色体铺片（反向染色体涂染），确定了额外物质的来源。两条16p+染色体均包含来自9号染色体短臂（9p21.2 - pter）的超过30 Mb的DNA，而16q+染色体包含来自2q37的约9 Mb的DNA。每种情况下均已定位16号染色体上的断点；短臂上的两个断点位于末端带16p13.3内的不同点。16号染色体长臂上的断点非常靠近（在16q端粒的230 kb范围内）16q端粒。单体和三体区域的确定使得能够将观察到的表型与其他报道的涉及这些区域非整倍体的病例进行比较。
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