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Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

Abstract：

:Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chromosomes allowed the identification of the chromosomal origin of these marker chromosomes. There was one example of a marker derived from each of chromosomes 1, 3, 6, 14, 16, 18, 20, 13 or 21, and the X, and there were two examples of markers derived from chromosome 12. One case possessed two markers, one derived from chromosome 6, and one derived from the X. The mechanism of generation of ring marker chromosomes is discussed. Five of seven cases who could be phenotypically assessed were abnormal. Three of these--the first with a ring chromosome derived from chromosome 1; the second with two markers, one derived from chromosome 6 and the other from the X chromosome; and the third with a ring chromosome derived from chromosome 20--each possessed distinctive facies. Additional cases with identified rings may allow the delineation of new chromosomal syndromes.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Callen DF,Eyre HJ,Ringenbergs ML,Freemantle CJ,Woodroffe P,Haan EA

subject

Has Abstract

pub_date

1991-04-01 00:00:00

pages

769-82

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

48

pub_type

杂志文章

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