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A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

Cockwell, Annette E., Jacobs, Patricia A., Beal, Sarah J. and Crolla, John A. (2003) A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities Human Genetics, 112, (3), pp. 298-302. (doi:10.1007/s00439-002-0887-z).

Record type: Article

Abstract

Fifty chromosomally normal couples with three or more miscarriages were examined using fluorescent in situ hybridisation (FISH) and a library of subtelomere-specific probes together with alphoid repeats mapping to the acrocentric centromeres. Six abnormalities were found. Firstly, a cryptic reciprocal subtelomere translocation between the long arm of a chromosome 3 and the short arm of a chromosome 10. The other five cryptic abnormalities involved the acrocentric chromosome pericentromeric regions and in one case also Yp. Two patients had a rearranged chromosome 13, where the centromeric region was found to be derived from the short arm, centromere and proximal long arm of chromosome 15. Another two patients had a derived chromosome 22, where the centromere was replaced by two other centromeres, one derived from chromosome 14 and the other from either chromosome 13 or 21, while one patient had the subtelomere region of Yp translocated onto the short arm of a chromosome 21. These abnormalities may be the underlying cause of the recurrent miscarriages, because they may result in abnormal pairing configurations at meiosis leading to non-disjunction of whole chromosomes at metaphase I. The frequency of rearrangements seen in the recurrent miscarriage patient population was significantly different from that in the control group (P=0.0096, Fisher's exact test) due to the acrocentric pericentromeric abnormalities.

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More information

Published date: March 2003
Keywords: fish, recurrent miscarriage, subtelomere, acrocentric centromeres

Identifiers

Local EPrints ID: 24657
URI: http://eprints.soton.ac.uk/id/eprint/24657
ISSN: 0340-6717
PURE UUID: be798241-99c6-4cdf-a524-8cdde574c066

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Date deposited: 04 Apr 2006
Last modified: 17 Jul 2017 16:13

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Contributors

Author: Annette E. Cockwell
Author: Patricia A. Jacobs
Author: Sarah J. Beal
Author: John A. Crolla

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