Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure,...

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Published in:	Balkan journal of medical genetics Vol. 23; no. 2; pp. 25 - 34
Main Authors:	Satkin, NB, Karaman, B, Ergin, S, Kayserili, H, Kalelioglu, IH, Has, R, Yuksel, A, Basaran, S
Format:	Journal Article
Language:	English
Published:	Poland Sciendo 23-03-2021 De Gruyter Poland
Subjects:	Apparently balanced structural chromosomal abnormalities (ABCRs) Array-comparative genomic hybridization (aCGH) Breakpoints Chromosomal microarray (CMA) Chromosome rearrangements Cryptic genomic imbalances DNA microarrays Fetal ultrasound findings Fetuses Genomes Genomic imprinting Hybridization Original Phenotypes Ultrasonic imaging Ultrasound Fetal ultrasound findings Array-comparative genomic hybridization (aCGH) Apparently balanced structural chromosomal abnormalities (ABCRs) Cryptic genomic imbalances Chromosomal microarray (CMA)
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Summary:	Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and in 14 cases. Seven cases were imbalanced (in postnatal series 33.3% and in cases 50.0%). Out of 13 prenatal cases, five were familial and eight were in origin and two cases were imbalanced (in 15.4% prenatal series and in 25.0% cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1311-0160 2199-5761 1311-0160
DOI:	10.2478/bjmg-2020-0026