Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions

Guediche, Narjes; Tosca, Lucie; Nouchy, Marc; Lecerf, Laure; Cornet, D.; Brisset, Sophie; Goossens, Michel; Tachdjian, Gérard

doi:10.1016/j.ejmg.2012.09.002

Cited by 4 publications

(4 citation statements)

References 34 publications

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“…The third case presented 2 sSMC associated with repeated abortions [Guediche et al, 2012b]. In the 3.3-Mb DNA fragment of sSMC (20), 35 genes were mapped.…”

Section: Genetic Content Of Ssmc In Infertile Patientsmentioning

confidence: 99%

Small Supernumerary Marker Chromosomes in Human Infertility

Armanet

Tosca

Brisset

et al. 2015

Cytogenet Genome Res

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Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database (http://ssmc-tl.com/sSMC.html) search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility.

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“…The third case presented 2 sSMC associated with repeated abortions [Guediche et al, 2012b]. In the 3.3-Mb DNA fragment of sSMC (20), 35 genes were mapped.…”

Section: Genetic Content Of Ssmc In Infertile Patientsmentioning

confidence: 99%

Small Supernumerary Marker Chromosomes in Human Infertility

Armanet

Tosca

Brisset

et al. 2015

Cytogenet Genome Res

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“…Moreover, we wish to underline that it has been reported that the frequency of sSMCs detected in infertile patients is higher than that in the general population (between 0.122% and 0.125% versus 0.044%) and it is also different between male (0.165%) and female infertility (0.022%) [Guediche et al 2012;Liehr and Weise 2007]. In our case, the presence of the sSMC did not give rise to reproductive disorders in the patient's mother (who had three sons) and her sister (one daughter).…”

Section: Discussionmentioning

confidence: 96%

“…The effects of a sSMC seem to depend on its origin, size, content and the structure, as well as on the degree of mosaicism, the varying amounts of euchromatin, and their parental origin when the marker contains imprinted genes. The interpretation of the clinical significance of an sSMC is extremely problematic, as sSMC have heterogeneous phenotypical expression [Guediche et al 2012].…”

Section: Discussionmentioning

confidence: 99%

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

Santacroce

Trunzo

Leccese

et al. 2015

Systems Biology in Reproductive Medicine

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Small supernumerary marker chromosomes (sSMCs) originating from chromosome 10 are rare. A limited number of cases are documented. We report a new diagnosis of a mosaic sSMC (10) in a normal female who asked for genetic evaluation before undergoing controlled ovarian hyperstimulation, in vitro fertilization, and embryo transfer. Chromosome preparations from peripheral lymphocyte cultures were performed according to standard procedures. QFQ-banded chromosomes confirmed the presence of an sSMC: 47,XX,+mar[49]/46,XX[51]. FISH and array CGH analysis showed that the sSMC consisted of chromosome 10 with a gain of the 10p11.1p11.21 (2.5 Mb) chromosomal region. The presence of sSMC (10) was also confirmed in the patient's mother and sister. It did not appear to affect the phenotype of the women who were phenotypically normal and healthy, and at the time of writing the woman became pregnant naturally. Phenotypes associated with an sSMC vary from normal to severely abnormal. It has been shown that variations in the chromosomal region of sSMCs result in observable differences in clinical outcome. The phenotypical consequences of sSMCs are difficult to predict because of differences in euchromatic DNA content, chromosomal origin, and varying degrees of mosaicism. Therefore, the continued investigation of a larger number of sSMC cases, in particular those originating from chromosome 10 that are the infrequently encountered and characterized, and a better understanding of the genetic content is important in order to improve the delineation of karyotype-phenotype correlation, contributing to a more informed prenatal counseling or prognosis.

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“…The effect of sSMC commonly depends on its origin, size, content, structure and the proportion of mosaicism, as well as the amounts of euchromatin 10 . Others has reported that the risk of an abnormal phenotype could be associated with the size of the euchromatin region (even less than 1 Mb) or the number of genes (even less than 10).…”

Section: Discussionmentioning

confidence: 99%

Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

Kong

2021

Preprint

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Objective To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMC) and conduct precise genetic counseling.Methods We retrospectively searched and reviewed the de novo sSMC cases detected during prenatal diagnosis in The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20314 cases of amniotic fluid from pregnant women were performed. For 17 samples with de novo sSMC, 11 of them were subjected to single nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 11 sSMC cases, two sSMC were derived from chromosome 9, four sSMC were derived from chromosome 12, 18, 22 and X , separately. For the remaining 5 cases, they were not identified by SNP array or CNV-seq because they lacked euchromatin or had low proportion mosaicism. Four of them with the karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN ) , the left one with the karyotype of 46,XN,+mar was Turner syndrome (seq[hg19] 45,XO). Five sSMC samples were mosaics of all these 17 cases. Conclusion Considering the variable origins of sSMC, further genetics testing of sSMC should be performed by SNP array or CNV-seq. The detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

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Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions

Cited by 4 publications

References 34 publications

Small Supernumerary Marker Chromosomes in Human Infertility

Small Supernumerary Marker Chromosomes in Human Infertility

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

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