Journal of Clinical & Medical Genomics

Bozinovski G

Publications

• Research Article
  Hypomelanosis of Ito and De novo Interstitial 15q11.2q13.3 Triplication in Bulgarian Family
  Author(s): Mladenova M, Koleva M, Rodopska E, Alexandrova I, Bojinova V, Plaseska-Karanfilska D, Bozinovski G, Todorova A and Mitev VMladenova M, Koleva M, Rodopska E, Alexandrova I, Bojinova V, Plaseska-Karanfilska D, Bozinovski G, Todorova A and Mitev V
  
  Here we report a case of Hypomelanosis of Ito (HI) and de novo interstitial 15q11.2q13.3 triplication. The HI is typically associated with various chromosomal anomalies, that is why a karyotyping was selected as a first choice in genetic approach. The obtained result showed a pathological karyotype: additional material on the long arm of chromosome 15,(15)(q11q13) bands. To confirm this extra material on the long arm of chromosome 15, our subsequent step was Multiplex Ligation-dependent Probe Amplification analysis (MLPA), which detected abnormal copy numbers, corresponding to duplication, along the targeted region 15q11.2 (genes SNRPN and UBE3A). In order to further clarify the duplication boundaries the aCGH was performed, which revealed arr[GRCh37] 15q1 1.2q13.3(22,558,697-30,366,124)x4, 15q13.2q13.3(30,652,489-32,462,701)x3. As a final step we conducte.. Read More»
  

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