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Pregled bibliografske jedinice broj: 422306

De novo unbalanced whole arm translocation resulting in 18p- syndrome


Petković, Iskra; Barišić, Ingeborg
De novo unbalanced whole arm translocation resulting in 18p- syndrome // Chromosome Research / Macgregor, Herbert (ur.).
Dordrecht: Springer, 2009. str. S34-S34 (poster, međunarodna recenzija, sažetak, znanstveni)


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Naslov
De novo unbalanced whole arm translocation resulting in 18p- syndrome

Autori
Petković, Iskra ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Chromosome Research / Macgregor, Herbert - Dordrecht : Springer, 2009, S34-S34

Skup
7th European Cytogenetics Conference

Mjesto i datum
Stockholm, Sweden, 04.07.2009. - 07.07.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
whole arm translocation

Sažetak
Whole arm translocations(WAT) are rare constitutional abnormalities. Aberration results from centromeric fission or juxtacentromeric breaks and reciprocal exchange of entire arms of two chromosomes. WAT involving chromosome 18 account for approximately 16% of all cases of monosomy 18p. To the best of our knowledge only three cases of t(15 ; 18) leading to 18p monosomy have been reported so far. In this study we performed clinical, cytogenetic and FISH studies in one additional case of 18p monosomy due to unbalanced WAT. Our patient is an 8-year-old girl. The child's phenotype showed mental and somatic retardation, round and dysmorphic face, strabismus, skeletal anomalies, heart malformations and muscular hypotonia. Cytogenetic analyses were performed on slides obtained by peripheral blood culture. High-resolution G-banding method, RBG- and CBG- methods were used for chromosome identification. FISH method with whole chromosome 15 and 18 painting probes, D15Z1, SNRPN, PML, D18Z1 and D18S552 probes were used for precise characterization of structural rearrangement. Analysis revealed monosomy 18p resulting from an unbalanced whole arm translocation between chromosome 15 and 18. Aberrant chromosome presents two centromeric constrictions. CBG-banding did not show two separate centromeric regions, while FISH analysis confirmed the presence of centromeric regions from chromosome 15 and 18 on the derived chromosome. Breakpoints were attributed to 15p11.2 and 18p11 bands. Parental karyotypes were normal indicating de novo origin of chromosome rearrangement. Mechanisms of formation of WAT are poorly understood. This study presents evidence that unbalanced WAT between chromosomes 15 and 18 retain centromeric region of both chromosomes involved in the rearrangement, and suggests that translocation is not the result of recombination involving centromeric α -satellite DNA. Other factors like interphase chromosome domains, low-copy repeats or segmental duplications may be important in the etiology of unbalanced whole arm translocation 15 ; 18 in our patient as well as in two other cases reported in literature.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS - )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Profili:

Avatar Url Ingeborg Barišić (autor)

Avatar Url Iskra Petković (autor)

Citiraj ovu publikaciju

Petković, Iskra; Barišić, Ingeborg
De novo unbalanced whole arm translocation resulting in 18p- syndrome // Chromosome Research / Macgregor, Herbert (ur.).
Dordrecht: Springer, 2009. str. S34-S34 (poster, međunarodna recenzija, sažetak, znanstveni)
Petković, I. & Barišić, I. (2009) De novo unbalanced whole arm translocation resulting in 18p- syndrome. U: Macgregor, H. (ur.)Chromosome Research.
@article{article, editor = {Macgregor, H.}, year = {2009}, pages = {S34-S34}, keywords = {whole arm translocation}, title = {De novo unbalanced whole arm translocation resulting in 18p- syndrome}, keyword = {whole arm translocation}, publisher = {Springer}, publisherplace = {Stockholm, Sweden} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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