AI Article Synopsis
- - The 22q11 chromosomal region has sequences that can lead to copy number variations (CNVs) due to non-allelic homologous recombination, specifically causing deletions and duplications in certain regions.
- - A patient was studied who had a new 2.5-Mb deletion in the proximal part of the 22q11.2 region and a 1.3-Mb duplication in the distal part, which is unusual and has not been documented before.
- - The study compares clinical and molecular data with existing literature to enhance understanding of the genetic and phenotypic variability of 22q11.2 deletion syndrome, stressing the challenges in genetic counseling due to this complexity.
Article Abstract
The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.
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| http://dx.doi.org/10.1002/ajmg.a.36809 | DOI Listing |
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