Paediatria Croatica, Vol. 61 No. 2, 2017.
Case report
https://doi.org/10.13112/PC.2017.12
De novo complex chromosomal rearrangement in region 2q32q35
Ana-Maria Ivankov
Adriana Bobinec
Ljubica Boban
Ivona Sansović
Ingeborg Barišić
Abstract
Complex chromosomal rearrangements are rare events involving three or more cytogenetic breaks, generally on two or more chromosomes.
If breakpoints are localized and show lack of homology, they are most likely formed by the mechanism called chromothripsis.
Chromothripsis is a single catastrophic event where a part or an entire chromosome, or few chromosomes are fragmented
into multiple pieces and reassembled in a random order. Here we report on a 5.5-year-old boy with characteristic
dysmorphism, cleft palate, dental anomaly, patent ductus arteriosus, feeding diffi culties and global developmental delay. Conventional
cytogenetic analysis and chromosomal microarray analysis revealed complex chromosomal rearrangement in region
2q32q35. The boy was diagnosed with Glass syndrome, based on clinical phenotypic features and results of genetic analysis. Considering
the localization of rearrangements, the mechanism of origin could be chromothripsis. To confi rm the mechanism, additional
research with next-generation sequencing methods is required.
Keywords
chromosomal rearrangements; chromothripsis; chromosomal microarray; Glass syndrome
Hrčak ID:
201056
URI
Publication date:
22.6.2017.
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