Document Type
Article
Publication Date
2009
College/Unit
School of Medicine
Department/Program/Center
Pathology, Anatomy and Laboratory Medicine
Abstract
Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced translocation. However, the frequency of carriers for cryptic balanced translocations is unknown. To determine this frequency, 565 phenotypically normal unrelated individuals were examined for balanced subtelomeric rearrangements using Fluorescent In Situ hybridization (FISH) probes for all subtelomere regions. While no balanced subtelomeric rearrangements were identified, three females in this study were determined to be mosaic for the X chromosome. Mosaicism for XXX cell lines were observed in the lymphocyte cultures of 3 in 379 women (0.8%), which is a higher frequency than the 1 in 1000 (0.1%) reported for sex chromosome aneuploidies. Our findings suggest that numerical abnormalities of the X chromosome are more common in females than previously reported. Based on a review of the literature, the incidence of cryptic translocation carriers is estimated to be approximately 1/8,000, more than ten-fold higher than the frequency of visible reciprocal translocations.
Digital Commons Citation
Wise, Jasen L.; Crout, Richard J.; McNeil, Daniel W.; Weyant, Robert J.; Marazita, Mary L.; and Wenger, Sharon L., "Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization" (2009). Faculty & Staff Scholarship. 2865.
https://researchrepository.wvu.edu/faculty_publications/2865
Source Citation
Wise JL, Crout RJ, McNeil DW, Weyant RJ, Marazita ML, Wenger SL (2009) Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization. PLoS ONE 4(6): e5855. https://doi.org/10.1371/journal.pone.0005855
Comments
© 2009 Wise et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.