Balkan Journal of Medical Genetics

A NOVEL DE NOVO PARACENTRIC INVERSION [inv(20)(q13.1q13.3)] ACCOMPANIED BY AN 11q14.3-q21 MICRODELETION IN A PEDIATRIC PATIENT WITH AN INTELLECTUAL DISABILITY
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
*Corresponding Author: Dr. Sophia Zachaki, Genesis Genoma Lab, Kifisias Avenue 302, Chalandri, 15232, Athens, Greece. Tel.: +30-210-6803130. Fax: +30-210-6894778. E-mail: szachaki@genlab.gr
page: 63

METHODS AND RESULTS

Cytogenetic analysis of the boy and his parents was performed on G-banded chromosome preparations at high resolution level (>550 bphs) from PHA (phytohemagglutinin)- stimulated peripheral blood lymphocytes. Imaging and karyotyping were achieved via microscopy and computer imaging techniques. For each individual, 25 metaphases were fully analyzed and karyotypes were described according to the International System for Human Cytogenetic Nomenclature (ISCN) 2016 [6]. Karyotypic analysis showed that the boy was a carrier of a PAI of chromosome 20, with breakpoints at q13.1 and q13.3 chromosomal regions in all metaphases analyzed [46,XY, inv(20) (q13.1q13.3)] (Figure 1), confirming the prenatal karyotype. Karyotypes of both parents were normal indicating that inv(20) was a de novo chromosomal abnormality in the child. Written informed consent was obtained from the patient’s mother for publication of this case report and accompanying images. Fluorescent in situ hybridization (FISH) performed on peripheral blood of the boy using whole chromosome paint for chromosome 20 (Vysis, Abbott Laboratories, Lake Bluff, IL, USA) revealed a normal hybridization pattern. Therefore, the karyotype was defined as 46,XY,inv(20) (q13.1q13.3).ishinv(20)(q13.1q13.3) (wcp20+) de novo. Molecular karyotyping was also performed in order to identify possible submicroscopic unbalanced chromosomal aberrations not detectable by G-banded chromosomal analysis. The G3 4x180k CGH+SNP (single nucleotide polymorphism) microarray platform with an average probe spacing of 13 kb (Agilent Technologies, Santa Clara, CA, USA) was used. Samples were processed according to manufacturer’s instructions and CytoGenomics 4.1 software (Agilent Technologies) was used for feature extraction and visualization of the resulting data. For annotation of genes in the deleted or duplicated genomic segments the University of California Santa Cruz (UCSC) Genome Browser (http://genome.ucsc.edu/), the Database of Genomic Variants (http://projects.tcag.ca/variation/; human genome build 19) and DECIPHER (https://decipher. sanger.ac.uk/) databases, were used. Array comparative genome hybridization revealed a 100 kb microdeletion in the inverted segment at the 20q13.12 region, which is considered a copy number polymorphism. In addition, an interstitial deletion of 1.97 Mb at the chromosomal region 20q12 (20:38157428-40128669) was revealed, distal from the inverted segment that included 11 genes (Table 1), among which is the MAFB OMIM morbid gene. Interestingly, another deletion of 4.5 Mb was detected at chromosomal region 11q14.3-11q21 (11:89545468-94077250, hg19) containing 36 genes of uncertain clinical significance (Figure 2). Detected relevant microduplications and microdeletions are presented in Table 1.

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