Research Article Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome

Minzhenkova, M.E.; Yurchenko, D.A.; Semenova, N.A.; Markova, Z.G.; Tarlycheva, A.A.; Shilova, N.V.

doi:10.4238/gmr19065

Genet. Mol. Res.

2022

DOI: 10.4238/gmr19065

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Research Article Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome

M.E. Minzhenkova¹,

D.A. Yurchenko²,

N.A. Semenova³

et al.

Abstract: ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 21 (4): gmr19065 M.E. Minzhenkova et al. 2complexity and to resolve the nature of the complex chromosomal rearrangement.

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2024

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Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers

Yurchenko,

Markova,

Minzhenkova

et al. 2024

BRSMU

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Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified unambiguously by standard cytogenetic methods. A comprehensive approach involving the use of molecular cytogenetic methods is required for the more thorough morphological assessment of such chromosomes, as well as for the development of strategy for genetic counseling of the patients being the sSMC carriers. It is widely accepted that the development of abnormal phenotype by the patients having sSMC in their karyotype is associated with the presence of euchromatic region material in the marker chromosome. Therefore, it results from the presence of relatively large DNA copy number variations (CNVs) in the form of duplication, triplication, and more increased copy numbers; which are localized in the pericentromeric region of the appropriate chromosome. Pericentromeric CNVs can be involved in the chromosome imbalance in asymptomatic carriers of sSMC as well, however, the boundaries of such imbalance have not been clearly identified. The study was aimed to acquire additional information about the genomic topology of the DNA regions insensitive to the genes copy number increase. FISH analysis with commercial and homemade DNA probes was performed in 18 carriers of sSMC 15 and 22 having no clinically significant phenotypic abnormalities. The molecular cytogenetic testing showed that pericentromeric euchromatic regions sized 1.2 Mb and 714 kb, respectively, were found in 33% of cases (6 out of 18). We assume that these regions comprise no potentially dosage-sensitive genes.

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Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers

Yurchenko,

Markova,

Minzhenkova

et al. 2024

BRSMU

View full text Add to dashboard Cite

show abstract

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Research Article Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome

Abstract: ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 21 (4): gmr19065 M.E. Minzhenkova et al. 2complexity and to resolve the nature of the complex chromosomal rearrangement.

Cited by 1 publication

References 24 publications

Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers

Molecular cytogenetic characteristics of small supernumerary marker chromosomes 15 and 22 in asymptomatic carriers

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