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Balkan J Med Genet. 2018 Dec 31;21(2):59-62. doi: 10.2478/bjmg-2018-0021. eCollection 2018 Dec.

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics.

Hy I1, V S1,2, I I1,2, A L1,2, R V3,4, S I4, L B4, D T4,5.

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Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Plovdiv, Bulgaria.
Department of Medical Genetics, University Hospital "St. George," Plovdiv, Bulgaria.
Department of Biology, Medical Genetics and Microbiology, Sofia University "St. Kliment Ohridski," Sofia, Bulgaria.
Department of Genomics, Hospital "Dr. Malinov," Sofia, Bulgaria.
Department of Medical Genetics, Medical University Sofia, Sofia, Bulgaria.


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 (SNP)-array and array comparative genomic hybridization (aCGH) as diagnostic tools has led to the recognition of new microdeletion/microduplication syndromes associated with neurodevelopmental disorders. It is also useful for further characterization of marker chromosomes. Here, we report a girl with mild intellectual disability and mild facial dysmorphisms. Cytogenetic analysis showed a marker chromosome in some percent of the cells and was followed by SNP-array karyotyping that detected, in addition, a 9655 Mb de novo interstitial deletion at 9q21.1-9q21.2.


Deletion at 9q21.1; Interstitial deletion; Single nucleotide polymorphism (SNP)-array

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