TY - JOUR

T1 - Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

AU - Karamysheva, Tatyana V.

AU - Gayner, Tatyana A.

AU - Muzyka, Vladimir V.

AU - Orishchenko, Konstantin E.

AU - Rubtsov, Nikolay B.

N1 - Funding Information: Funding: This work was supported by the Ministry of Education and Science of the Russian Federation, grant #2019-0546 (FSUS-2020-0040) and by the Russian Foundation for Basic Research (#19-015-00084a).

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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.

KW - In vitro fertilization (IVF)

KW - Microdissection

KW - Reciprocal translocation

KW - Small supernumerary marker chromosomes (sSMC) in humans

UR - http://www.scopus.com/inward/record.url?scp=85098495508&partnerID=8YFLogxK

U2 - 10.3390/genes11121511

DO - 10.3390/genes11121511

M3 - Article

C2 - 33348590

AN - SCOPUS:85098495508

VL - 11

SP - 1

EP - 19

JO - Genes

JF - Genes

SN - 2073-4425

IS - 12

M1 - 1511

ER -