8号染色体短臂三体：通过荧光原位杂交检测到的异常起源
Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.
作者信息
Moore C M, Barnum K, Kaye C I, Kagan-Hallett K S, Liang J C
机构信息
Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284-7762.
出版信息
Hum Genet. 1992 May;89(3):307-10. doi: 10.1007/BF00220547.
Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. G-banding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromeric-specific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.
对一名患有脑部和心脏异常的新生儿进行染色体分析，结果显示8号染色体短臂三体。母亲的核型显示有47条染色体，其中一条8号染色体表现为两条独立的染色体，一条近端着丝粒8号染色体短臂和一条端着丝粒8号染色体长臂。G显带和银染显示8号染色体短臂上有一个随体和核仁组织区（NOR）。针对8号、15号、13/21号、22号染色体着丝粒以及近端着丝粒染色体的着丝粒特异性探针显示，只有8号染色体长臂的着丝粒来自8号染色体，而8号染色体短臂的着丝粒来自14号染色体。
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