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

Balkan journal of medical genetics: BJMG

I Ivanov^1,2¹  A Linev^1,2²  R Vazharova^3,4³  V Stoyanova^1,2⁴  HY Ivanov^1⁵ 

[1] Department of Biology, Medical Genetics and Microbiology, Sofia University “St. Kliment Ohridski,”, Sofia, Bulgaria^3;Department of Genomics, Hospital “Dr. Malinov,”, Sofia, Bulgaria^4;Department of Medical Genetics, Medical University Sofia, Sofia, Bulgaria^5;Department of Medical Genetics, University Hospital “St. George,”, Plovdiv, Bulgaria^2;Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Plovdiv, Bulgaria^1

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

DOI  :  10.2478/bjmg-2018-0021

学科分类：生物科学（综合）

来源: Makedonska Akademija na Naukite i Umetnostite

【 摘 要 】

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.

【 授权许可】

Unknown