alexa Hypomelanosis of Ito and <em>De novo</em> Interstitial 15q11.2q13.3 Triplication in Bulgarian Family | OMICS International| Abstract
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  • Research Article   
  • J Clin Med Genomics 2019, Vol 7(1): 155

Hypomelanosis of Ito and De novo Interstitial 15q11.2q13.3 Triplication in Bulgarian Family

Mladenova M1,2*, Koleva M3, Rodopska E3, Alexandrova I3, Bojinova V3, Plaseska-Karanfilska D4, Bozinovski G4, Todorova A1,2 and Mitev V2
1Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria
2Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria
3Clinic of Child Neurology, University Hospital ‘Sv. Naum’, Medical University Sofia, Bulgaria
4Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonia, Bulgaria
*Corresponding Author : Mladenova M, Genetic Medico-Diagnostic Laboratory “Genica”, Ani Bue Str. 84,Sofia, Bulgaria, Email: [email protected]

Received Date: Jan 14, 2019 / Accepted Date: Jan 25, 2019 / Published Date: Feb 04, 2019


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 conducted segregation analysis within the family by QF-PCR of polymorphic loci to identify the origin of the chromosomal rearrangement, which turned out to be maternally inherited. Based on the results from aCGH, in our opinion the reported here chromosomal rearrangement is an interstitial triplication of chromosome 15, resulting in very rare case of tetrasomy within the targeted region of chromosome 15q. Review of the literature showed that, here we report a first genetically proven case of Hypomelanosis of Ito caused by a de novo interstitial 15q11.2q13.3 triplication.

Keywords: Hypomelanosis of Ito; Interstitial 15q11.2q13.3 triplication; De novo

Citation: Mladenova M, Koleva M, Rodopska E, Alexandrova I, Bojinova V, et al. (2019) Hypomelanosis of Ito and De novo Interstitial 15q11.2q13.3 Triplication in Bulgarian Family. J Clin Med Genomics 7: 155.

Copyright: © 2019 Mladenova M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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