scholarly journals A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay

2020 ◽  
pp. 51-55
Author(s):  
В.Г. Антоненко ◽  
Д.В. Светличная ◽  
М.Е. Миньженкова ◽  
Н.В. Шилова ◽  
С.Г. Калиненкова
Keyword(s):  
Marker Chromosome ◽  
Ring Chromosome ◽  
Speech Delay ◽  
Small Supernumerary Marker Chromosome ◽  
Facial Anomalies

Представлен случай малой сверхчисленной маркерной хромосомы (мСМХ) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениями. Структура маркерной хромосомы, установленная при FISH-анализе, была определена как r(20)(p12q12). Обсуждаются проблемы мСМХ, содержащих только околоцентромерные области, и вопросы корреляции генотип-фенотип. We report on a case of small supernumerary marker chromosome (sSMC) in a 3-year boy with facial anomalies and speech delay. The constitution of marker chromosome was designated by mFISH analysis as r(20)(p12q12). The problems of diagnostics of sSMC, containing the pericentromeric regions only, and genotype-phenotype correlations are discussied.

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

2017 ◽  
Vol 176 (2) ◽  
pp. 443-449 ◽  
Author(s):  
András Szabó ◽  
Márta Czakó ◽  
Kinga Hadzsiev ◽  
Balázs Duga ◽  
Zsolt Bánfai ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Small Supernumerary Marker Chromosome

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

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

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.

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