Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics

Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics

Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism...

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Bibliographic Details
Main Authors: Ivanov HY, Stoyanova V, Ivanov I, Linev A, Vazharova R, Ivanov S, Balabanski L, Toncheva D
Format: Article
Language:English
Published: Sciendo 2018-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
deletion at 9q21.1
interstitial deletion
single nucleotide polymorphism (snp)-array
Online Access:https://doi.org/10.2478/bjmg-2018-0021

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