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Review
. 2020 Apr;8(4):e1135.
doi: 10.1002/mgg3.1135. Epub 2020 Jan 28.

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review

Bader Almuzzaini  1   2 , Nasser S Alatwi  2   3 , Saif Alsaif  3   4 , Mohammed A Al Balwi  1   2   3
Affiliations
Review

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review

Bader Almuzzaini et al. Mol Genet Genomic Med. 2020 Apr.

Abstract

Background: Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved.

Method and results: We describe a preterm male harboring a novel interstitial deletion encompassing the 2q21.2-q23.3 region of 2q, a deletion that has not been described previously. The patient had multiple congenital anomalies including agenesis of the corpus callosum, congenital cardiac defects, bilateral hydronephrosis, spontaneous intestinal perforation, hypospadias and cryptorchidism, sacral dimple and rocker-bottom feet. Array comparative genomic hybridization (aCGH) analysis revealed a de novo >18 Mb deletion at 2q21.1-q23.3, a region that included (605802, 611472 and 604593) OMIM genes.

Conclusion: To the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1-q23.3 in which haploinsufficiency of dose-sensitive genes is shown to contribute to the patient's phenotype.

Keywords: 2q21.2-q23.3; Interstitial microdeletion; MBD5; ZEB2; array Comparative Genomic Hybridization (aCGH); deletion KIF5C.

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
G‐banded chromosomes and array CGH analysis. High‐resolution chromosomal analysis revealed a male karyotype with 46,XY del(2)(q21.1q23.3) at banding resolution of 550. Chromosome 2 ideogram highlights the proposed microdeletion cytogenetic genomic segment. Array CGH illustrates the 18.5 Mbp CNV deletion that appears in red color. Haploinsufficiency genes that apparently contribute to the patient's phenotype
Figure 2
Figure 2
Summary of significant reported cytogenetic breakpoints associated with chromosome 2 band q21.1‐23.3
See this image and copyright information in PMC

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