Directly transmitted unbalanced chromosome abnormalities and euchromatic variants


Barber, J.C. (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. Journal of Medical Genetics, 42, (8), 609-629. (doi:10.1136/jmg.2004.026955).

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Original Publication URL: http://dx.doi.org/10.1136/jmg.2004.026955

Description/Abstract

In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring.

No detectable phenotypic effect was evident in 23/130 (18%) UBCA families ascertained mostly through prenatal diagnosis (group 1). In 30/130 (23%) families, the affected proband had the same UBCA as other phenotypically normal family members (group 2). In the remaining 77/130 (59%) families, UBCAs had consistently mild consequences (group 3).

In the 70 families with established EVs of 8p23.1, 9p12, 9q12, 15q11.2, and 16p11.2, no phenotypic effect was apparent in 38/70 (54%). The same EV was found in affected probands and phenotypically normal family members in 30/70 families (43%) (group 2), and an EV co-segregated with mild phenotypic anomalies in only 2/70 (3%) families (group 3). Recent evidence indicates that EVs involve copy number variation of common paralogous gene and pseudogene sequences that are polymorphic in the normal population and only become visible at the cytogenetic level when copy number is high.

The average size of the deletions and duplications in all three groups of UBCAs was close to 10 Mb, and these UBCAs and EVs form the "Chromosome Anomaly Collection" at http://www.ngrl.org.uk/Wessex/collection. The continuum of severity associated with UBCAs and the variability of the genome at the sub-cytogenetic level make further close collaboration between medical and laboratory staff essential to distinguish clinically silent variation from pathogenic rearrangement.

Item Type: Article
ISSNs: 0022-2593 (print)
Related URLs:
Keywords: transmitted, unbalanced, euchromatic variant, copy number variation, web site
Subjects: H Social Sciences > HQ The family. Marriage. Woman
R Medicine > R Medicine (General)
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 24619
Date Deposited: 03 Apr 2006
Last Modified: 27 Mar 2014 18:13
URI: http://eprints.soton.ac.uk/id/eprint/24619

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