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Rodopska E | OMICS International
ISSN: 2472-128X

Journal of Clinical & Medical Genomics
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Rodopska E


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

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... Read More»

Mladenova M, Koleva M, Rodopska E, Alexandrova I, Bojinova V, Plaseska-Karanfilska D, Bozinovski G, Todorova A and Mitev V

: J Clin Med Genomics 2019, 7: 155

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article