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Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report


Kosztolányi, G; Brecevic, L; Bajnòczky, K; Schinzel, A; Riegel, M (2011). Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. European Journal of Medical Genetics, 54(2):152-156.

Abstract

Additional small ring chromosome 1 is described with increasing rate of mosaicism in three generations. Ten years after the first examination, the mosaic rates in the patients were strikingly similar. An increase in the expression of phenotypic anomalies was also observed in the successive generations. FISH examinations following microdissection revealed signals which were positive for 1p13 and 1q21 indicating that the ring contained euchromatic segments on both ends. Additionally, array-CGH whole-genome analysis showed a single copy gain corresponding to band 1p12 to band 1q21-1 of chromosome 1 in the patients. The presence of euchromatic material from chromosome 1 in the ring suggests that the relationship between the cytogenetic findings and the clinical manifestation is likely causative. These unique observations might be explained by mitotic loss of the ring at early embryogenesis, and would indicate different mitotic vulnerability of certain chromosome abnormalities at early postzygotic stages versus later during development.

Abstract

Additional small ring chromosome 1 is described with increasing rate of mosaicism in three generations. Ten years after the first examination, the mosaic rates in the patients were strikingly similar. An increase in the expression of phenotypic anomalies was also observed in the successive generations. FISH examinations following microdissection revealed signals which were positive for 1p13 and 1q21 indicating that the ring contained euchromatic segments on both ends. Additionally, array-CGH whole-genome analysis showed a single copy gain corresponding to band 1p12 to band 1q21-1 of chromosome 1 in the patients. The presence of euchromatic material from chromosome 1 in the ring suggests that the relationship between the cytogenetic findings and the clinical manifestation is likely causative. These unique observations might be explained by mitotic loss of the ring at early embryogenesis, and would indicate different mitotic vulnerability of certain chromosome abnormalities at early postzygotic stages versus later during development.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:December 2011
Deposited On:29 Jan 2012 14:47
Last Modified:05 Apr 2016 15:31
Publisher:Elsevier
ISSN:1769-7212
Publisher DOI:https://doi.org/10.1016/j.ejmg.2010.11.015
PubMed ID:21145991

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