| Title: |
De novo složena kromosomska preraspodjela u regiji 2q32q35. (Croatian) |
| Alternate Title: |
De novo complex chromosomal rearrangement in region 2q32q35. (English) |
| Authors: |
Ivankov, Ana-Maria, Bobinec, Adriana, Boban, Ljubica, Sansović, Ivona, Barišić, Ingeborg |
| Source: |
Paediatria Croatica; 2017, Vol. 61 Issue 2, p78-83, 6p |
| Abstract (English): |
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 difficulties 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 confirm the mechanism, additional research with next-generation sequencing methods is required. [ABSTRACT FROM AUTHOR] |
| Abstract (Croatian): |
Složene kromosomske preraspodjele su rijetke strukturne kromosomske aberacije koje uključuju tri ili više mjesta lomova u jednom ili više kromosoma. Ako pokazuju lokalizaciju i nedostatak homologije na mjestima lomova, najvjerojatnije su nastale mehanizmom zvanim kromotripsis. Kromotripsis je katastrofalan događaj u stanici koji uzrokuje razlamanje dijela kromosoma, cijelog kromosoma ili nekoliko njih i ponovno nausmično spajanje razlomljenih dijelova. U ovom radu prikazujemo 5,5-godišnjeg dječaka s izraženom dismorfijom, operiranim rascjepom nepca, anomalijom zubi, otvorenim ductusom arteriosus Botalli, slabijom uhranjenošću i globalnim razvojnim zaostajanjem. Klasičnom citogenetikom i kromosomskim microarrayem otkrivena je složena kromosomska preraspodjela u regiji 2q32q35. Temeljem kliničke slike i genetičkog nalaza dječaku je postavljena dijagnoza sindroma Glass. S obzirom na lokaliziranost preraspodjele, mehanizam nastanka je vjerojatno kromotripsis. Za potvrdu je potrebna dodatna analiza metodama sekvenciranja druge generacije. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |
