Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 549948

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


Kosztolányi, Gyorgy; Brečević, Lukrecija; Bajnòczky, K; Schinzel, Albert; Riegel, Mariluce
Mosaic supernumerary ring chromosome 1 in a three-generational family : 10-year follow-up report // European journal of medical genetics, 54 (2011), 2; 152-156 doi:10.1016/j.ejmg.2010.11.015 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 549948 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

Autori
Kosztolányi, Gyorgy ; Brečević, Lukrecija ; Bajnòczky, K ; Schinzel, Albert ; Riegel, Mariluce

Izvornik
European journal of medical genetics (1769-7212) 54 (2011), 2; 152-156

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Familial mosaicism; Supernumerary ring chromosome 1; Whole-genome array-CGH; Transgenerational increase in severity; 10-year follow-up

Sažetak
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 wholegenome 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

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Lukrecija Brečević (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com ac.els-cdn.com dx.doi.org

Citiraj ovu publikaciju:

Kosztolányi, Gyorgy; Brečević, Lukrecija; Bajnòczky, K; Schinzel, Albert; Riegel, Mariluce
Mosaic supernumerary ring chromosome 1 in a three-generational family : 10-year follow-up report // European journal of medical genetics, 54 (2011), 2; 152-156 doi:10.1016/j.ejmg.2010.11.015 (međunarodna recenzija, članak, znanstveni)
Kosztolányi, G., Brečević, 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 doi:10.1016/j.ejmg.2010.11.015.
@article{article, author = {Kosztol\'{a}nyi, Gyorgy and Bre\v{c}evi\'{c}, Lukrecija and Bajn\`{o}czky, K and Schinzel, Albert and Riegel, Mariluce}, year = {2011}, pages = {152-156}, DOI = {10.1016/j.ejmg.2010.11.015}, keywords = {Familial mosaicism, Supernumerary ring chromosome 1, Whole-genome array-CGH, Transgenerational increase in severity, 10-year follow-up}, journal = {European journal of medical genetics}, doi = {10.1016/j.ejmg.2010.11.015}, volume = {54}, number = {2}, issn = {1769-7212}, title = {Mosaic supernumerary ring chromosome 1 in a three-generational family : 10-year follow-up report}, keyword = {Familial mosaicism, Supernumerary ring chromosome 1, Whole-genome array-CGH, Transgenerational increase in severity, 10-year follow-up} }
@article{article, author = {Kosztol\'{a}nyi, Gyorgy and Bre\v{c}evi\'{c}, Lukrecija and Bajn\`{o}czky, K and Schinzel, Albert and Riegel, Mariluce}, year = {2011}, pages = {152-156}, DOI = {10.1016/j.ejmg.2010.11.015}, keywords = {Familial mosaicism, Supernumerary ring chromosome 1, Whole-genome array-CGH, Transgenerational increase in severity, 10-year follow-up}, journal = {European journal of medical genetics}, doi = {10.1016/j.ejmg.2010.11.015}, volume = {54}, number = {2}, issn = {1769-7212}, title = {Mosaic supernumerary ring chromosome 1 in a three-generational family : 10-year follow-up report}, keyword = {Familial mosaicism, Supernumerary ring chromosome 1, Whole-genome array-CGH, Transgenerational increase in severity, 10-year follow-up} }

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


Citati:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font