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Pregled bibliografske jedinice broj: 423241

De novo balanced translocation t(18 ; 20)(q21.3 ; q12) in a mentally retarded girl


Vraneković, Jadranka; Brajenović-Milić, Bojana; Babić-Božović, Ivana; Peterlin, Borut; Kapović, Miljenko; Riegel, Mariluce
De novo balanced translocation t(18 ; 20)(q21.3 ; q12) in a mentally retarded girl // Chromosome Research / Macgregor, Herbert (ur.).
Štokholm, Švedska: Springer, 2009. str. 49-49 (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
De novo balanced translocation t(18 ; 20)(q21.3 ; q12) in a mentally retarded girl

Autori
Vraneković, Jadranka ; Brajenović-Milić, Bojana ; Babić-Božović, Ivana ; Peterlin, Borut ; Kapović, Miljenko ; Riegel, Mariluce

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

Izvornik
Chromosome Research / Macgregor, Herbert - : Springer, 2009, 49-49

Skup
Seventh European Cytogenetics Conference

Mjesto i datum
Štokholm, Švedska, 4-7.07.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
De novo balanced translocation; mental retardation

Sažetak
We report a twenty-year-old girl with mental retardation, obesity, hirsutism and de novo balanced t(18 ; 20)(q21.3 ; q12) translocation. Fluorescence in situ hybridization (FISH) using whole chromosome paint probe 18, the partial chromosome paint 20 (PCP RH17J3), RP11-15C15C (18q21.32-33) and YAC942B1 (20q12) clones were used to precisely define the translocation breakpoints. Based on GTG-banding and FISH analyses, the patient’ s karyotype was interpreted as: 46, XX, t(18 ; 20)(q21.3 ; q12)[20].isht(18 ; 20)(YAC-942B1+ ; RP11-15C15+)[20]de novo. Aarray-comparative genomic hybridisation (a-CGH) examination using 44k and 244A (Agilent) oligonucleotide arrays did not detect a deletion or duplication, neither at the breakpoints or elsewhere in the genome. The abnormal phenotype observed in the patient could be explained by gene disruption, a position effect or could have occurred by coincidence.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekt / tema
062-0000000-1349 - Prenatalni probir za sindrom Downov (Bojana Brajenović-Milić, )

Ustanove
Medicinski fakultet, Rijeka

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