A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Reddy, Kavita S.; Aradhya, Swaroop; Meck, Jeanne; Tiller, George E.; Abboy, Sridevi; Bass, Harold N.

doi:10.1038/gim.2012.78

Cited by 23 publications

(25 citation statements)

References 37 publications

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“…sSMC are frequently complex, and whole array-CGH characterization of the sSMC provides informed genetic counseling [Reddy et al, 2013]. For some cases, it can be speculated that the chromosomal aberration led to an even more imbalanced, and subsequently unviable, situation in the potential offspring than that present in the sSMC carriers themselves.…”

Section: Preimplantation Genetic Diagnosis For Ssmc Associated With Imentioning

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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Section: Preimplantation Genetic Diagnosis For Ssmc Associated With Imentioning

confidence: 99%

Small Supernumerary Marker Chromosomes in Human Infertility

Armanet

Tosca

Brisset

et al. 2015

Cytogenet Genome Res

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“…There are several reported cases of SMC(8) coincident with complex, maternally, or paternally derived (hUPD or iUPD) [7]. To our knowledge, none have been described in association with ASD; however, various degrees of developmental delay, intellectual disability, and dysmorphism were reported in these cases, summarized in Table S5, [11,[26][27][28]. Since to date no known phenotypes are associated with UPD(8), it is plausible that UPD (8) does not contribute to the clinical phenotype in our patient.…”

Section: Discussionmentioning

confidence: 98%

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Ahram

Stambouli

Syrogianni

et al. 2016

Clinical Case Reports

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Key Clinical MessageVarious chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.

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“…This is characteristically seen in patients with developmental disorders [8]. Although its association with hematologic malignancies is not well defined, centrosome amplification has been suggested as a marker of aggressiveness and invasive phenotype in some solid cancers [9].…”

Section: Discussionmentioning

confidence: 99%

Aberrant Immunophenotypic Expression of CD5 in a Case of B Acute Lymphoblastic Leukemia: A Case Report

Mutreja

Pati

Bansal

et al. 2014

Indian J Hematol Blood Transfus

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Aberrant expression of CD5 has rarely been reported in B cell lineage acute lymphoblastic leukemia (B-ALL). We report the rare immunophenotypic expression of CD5 in a 20-year-old male who was diagnosed to have B-ALL on bone marrow examination. Cytogenetic analysis revealed a mosaic supernumerary marker chromosome. The patient died due to acute pancreatitis after admission. CD5 positive B-ALL may represent a distinct clinicopathologic subcategory of B-ALL with an aggressive clinical course.

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A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Cited by 23 publications

References 37 publications

Small Supernumerary Marker Chromosomes in Human Infertility

Small Supernumerary Marker Chromosomes in Human Infertility

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Aberrant Immunophenotypic Expression of CD5 in a Case of B Acute Lymphoblastic Leukemia: A Case Report

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