Magnani I, Sacchi N, Darfler M, Nisson P E, Tornaghi R, Fuhrman-Conti A M
Department of Biology and Genetics, School of Medicine, Milan, Italy.
Clin Genet. 1993 Apr;43(4):180-5. doi: 10.1111/j.1399-0004.1993.tb04444.x.
A constitutional chromosome 14 rearrangement was observed in a female with a psychodevelopmental disorder. Karyotype analysis using a variety of chromosome techniques, QFQ, GTG, CBG, Ag-NOR and DA-DAPI, showed a deletion of chromosome 14q32.1-qter region in association with a supernumerary marker chromosome. The marker, resembling a submetacentric, approximately half the size of a G group chromosome is C band and Ag-NOR negative. The heteromorphism of the satellites showed that the deleted chromosome 14 is paternal in origin. Chromosome painting using an Alu-PCR probe specific for the human chromosome 14 and fluorescent in situ hybridization (FISH) showed that the marker contains chromosome 14q32 sequences. It is likely that the marker was generated from the deleted chromosome 14 region through a complex rearrangement.
在一名患有精神发育障碍的女性中观察到一种先天性14号染色体重排。使用多种染色体技术（QFQ、GTG、CBG、Ag-NOR和DA-DAPI）进行核型分析，结果显示14号染色体q32.1-qter区域缺失，并伴有一条额外的标记染色体。该标记染色体类似亚中着丝粒染色体，大小约为G组染色体的一半，C带和Ag-NOR阴性。卫星的异质性表明缺失的14号染色体来自父方。使用针对人类14号染色体的Alu-PCR探针进行染色体涂染和荧光原位杂交（FISH）显示，该标记染色体包含14号染色体q32序列。该标记染色体很可能是通过复杂的重排从缺失的14号染色体区域产生的。
