Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Karamysheva, Tatyana V.; Gayner, Tatyana A.; Muzyka, Vladimir V.; Orishchenko, Konstantin E.; Rubtsov, Nikolay B.

doi:10.3390/genes11121511

Submit to this Journal Review for this Journal Edit a Special Issue

Article Menu

...

Open AccessArticle

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Tatyana V. Karamysheva

^1,*

Tatyana A. Gayner

^2,3,

Vladimir V. Muzyka

^1,4

Konstantin E. Orishchenko

^1,4

and

Nikolay B. Rubtsov

^1,4

Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia

Center of New Medical Technologies, 630090 Novosibirsk, Russia

⁴

Department of Genetic Technologies, Novosibirsk State University, 630090 Novosibirsk, Russia

Author to whom correspondence should be addressed.

Genes 2020, 11(12), 1511; https://doi.org/10.3390/genes11121511

Received: 23 November 2020 / Revised: 14 December 2020 / Accepted: 15 December 2020 / Published: 17 December 2020

(This article belongs to the Special Issue Chromosome-Centric View of the Genome Organization and Evolution)

View Full-Text Download PDF

Browse Figures

Citation Export

Abstract

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting. View Full-Text

Keywords: in vitro fertilization (IVF); microdissection; reciprocal translocation; small supernumerary marker chromosomes (sSMC) in humans

▼ Show Figures

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Supplementary Material

Supplementary File 1:
PDF-Document (PDF, 374 KiB)

Share and Cite

MDPI and ACS Style

Karamysheva, T.V.; Gayner, T.A.; Muzyka, V.V.; Orishchenko, K.E.; Rubtsov, N.B. Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function. Genes 2020, 11, 1511. https://doi.org/10.3390/genes11121511

AMA Style

Karamysheva TV, Gayner TA, Muzyka VV, Orishchenko KE, Rubtsov NB. Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function. Genes. 2020; 11(12):1511. https://doi.org/10.3390/genes11121511

Chicago/Turabian Style

Karamysheva, Tatyana V., Tatyana A. Gayner, Vladimir V. Muzyka, Konstantin E. Orishchenko, and Nikolay B. Rubtsov. 2020. "Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function" Genes 11, no. 12: 1511. https://doi.org/10.3390/genes11121511

Find Other Styles

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Abstract views Pdf views Html views

Article Menu

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Abstract

Supplementary Material

Share and Cite

Article Metrics

Article Access Statistics

Article Access Map by Country/Region

Further Information

Guidelines

MDPI Initiatives

Follow MDPI