RARE CASE OF A HETEROZYGOUS MICRODELETION
9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS
Ivanov HY, Stoyanova V, Ivanov I, Linev A,
Vazharova R, Ivanov S, Balabanski L, Toncheva D
*Corresponding Author: Dr. Hristo Y. Ivanov, Department of Pediatrics and Medical Genetics,
Medical University Plovdiv, Vasil Aprilov 15-A Str., Plovdiv 4002, Bulgaria. Tel: +359-884-827-070.
Fax: +359-326-022-338. E-mail: doctorhristoivanov@yahoo.com
page: 59
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Abstract
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.
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