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Case Reports in Genetics
Volume 2015, Article ID 321014, 5 pages
http://dx.doi.org/10.1155/2015/321014
Case Report

Exceptional Complex Chromosomal Rearrangements in Three Generations

1Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia
2Victorian Clinical Genetics Services (VCGS), Royal Children’s Hospital, Flemington Road, Melbourne, VIC 3052, Australia
3Agency for the Assessment and Application of Technology, Jl. MH Thamrin 8, Jakarta 10340, Indonesia

Received 9 October 2014; Revised 14 January 2015; Accepted 19 January 2015

Academic Editor: Evica Rajcan-Separovic

Copyright © 2015 Hannie Kartapradja et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.