Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism

Mikelsaar, Ruth; Lissitsina, Jelena; Bartsch, Oliver

doi:10.1007/s13353-011-0041-5

Cited by 7 publications

(8 citation statements)

References 19 publications

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“…Translocations involving an acrocentric chromosome have been thought to be more harmful for the fertility of the carrier than translocations not involving acrocentric chromosomes because of the tendency of acrocentric chromosomes to associate with the sex body (Mikelsaar et al 2011;Oliver-Bonet et al 2005). The translocation t (5;13) in our patient has the breakpoint at 13q12.1, where more than 120 genes have been localized.…”

Section: Discussionmentioning

confidence: 73%

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

et al. 2011

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We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes to the genomic instability.

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Section: Discussionmentioning

confidence: 73%

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

et al. 2011

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“… [4] On the other hand, the existence of euchromatin in the sSMC often had a detrimental effect on abnormal phenotypes while the duplication of heterochromatin in sSMC were harmless. [ 9 13 ]…”

Section: Discussionmentioning

confidence: 99%

“… [15] As for sSMC(22), 80% carriers were identified as non-mosaic dicentric duplications involving the euchromatic region 22q11.2, such as derivative chromosome 22 (der (22)t (11;22)(q23;q11.2)), cat-eye syndrome (inv dup (22q)). [ 9 16 ] And previous reports indicated that acrocentric sSMC was predominant in subfertile population, especially the chromosome 15, 14, and 22. [17]…”

Section: Discussionmentioning

confidence: 99%

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Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems

Sun

Zhang

et al. 2020

Medicine

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Rationale: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, which can be detected in patients with developmental retardation, infertile problems, and prenatal fetus. We report 3 adult female with fertility problems carrying sSMC(14/22) and aim to explore the correlation between sSMC(14/22) and fertility problems in women. Patient concerns: Three Chinese female patients were referred for infertility consultation in our hospital. Diagnoses: The karyotype of these 3 patients were 47, XX, +mar. The chromosome microarray analysis (CMA) detected various chromosomal duplications and deletions in the 3 cases: a 0.49Mb gain of 5q32 for case 1; a 0.54Mb gain of 14q32.33 and a 1.83Mb gain of 16p11.2 for case 2; a 0.37Mb loss of 13q21.2q21.31 and a 0.12Mb gain of Xp11.2 for case 3. Fluorescence in situ hybridization (FISH) using the specific probes for chromosomes 13/21, 14/22, and 15 was applied to identify the origination of these sSMC, which were all finally identified as sSMC(14/22). Interventions: Case 1 underwent the artificial reproductive technology to get her offspring and finally delivered a healthy male infant at 39 weeks. Case 2 did not plan to choose in vitro fertilization (IVF) to get offspring. Case 3 refused to do assisted reproductive technology. Outcomes: The genotype–phenotype correlation of sSMC(14/22) remain unclear. However, the existence of sSMC(14/22) might negatively affect the fertility ability in sSMC female carriers. Lessons: The combined application of traditional banding technique and molecular cytogenetic techniques can better identify more details of sSMC. For sSMC carriers with fertility problems, they could get their offsprings through assisted reproductive technologies after comprehensive fertility assessment.

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“…Spermatozoa bearing abnormal chromosomes may cause abnormal embryonic development, with poor cardiac activity, which can in turn, cause early pregnancy loss [30,31]. However earlier reports suggest the presence of this small bi-satellited chromosome 22 with the impaired spermatogenesis and male infertility due to the four fold dosage of centromeric sequences -this holds true for the male partner with marked oligospermia [32]. The presence of this small abnormal chromosome entity in the karyogram does not show any phenotypic abnormality or any other IQ related developmental variations in the individual as he is a wellqualified working professional.…”

Section: Discussionmentioning

confidence: 99%

Fetal Loss: A Genetic Insight of the De Novo Accessory Bi-Satellited Marker of Chromosome 22P

Oruganti¹,

Vidyadhari²,

Buddhavarapu³

et al. 2015

J Genet Syndr Gene Ther

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Supernumerary Marker Chromosomes (SMC) follow non mendelian fashion in their inheritance, and are reported in variety of phenotypes. Although markers that contain satellites/bi-satellite variations of short arms do not confer any phenotypic alterations, it affects the fertility, vigour and interferes at non-disjunction during cell division and proves lethal to foetus. We report a couple wherein wife had Recurrent Early Pregnancy Loss (REPL) due to loss of fetal cardiac activity and husband with oligoasthenospermia. The cytogenetic analysis of the wife showed 46,XX,9qh+ karyotype and that of husband revealed 47,XY,+mar karyotype. Delineation of marker was initiated using NOR (Nucleolar Organizer Region), C-banding conventional techniques in combination with Fluorescence In Situ Hybridization (FISH) using Whole Chromosome (WCP) and Locus Specific Identifier (LSI) probes. Marker was characterized to be of chromosome 22 origin with satellites on either side of the centromere inferring it to be a bi-satellited iso-chromosome 22p with its occurrence as partial tetrasomy. Our study attempts to provide a comprehensive understanding of this cytogenetic rearrangement and its possible consequences in fertility and REPL. Author SummaryFor the successful pregnancy outcome(s), many etiological factors like uterine anomalies, endocrinological factors, chromosomal anomalies etc., play a significant role emphasizing their importance resulting in the healthy offspring/progeny. Any disturbance or ambiguity in these factors results in fetal loss. Among these, chromosomal abnormalities of the genitors and their subsequent transmission contribute to a major extent in affecting the full term pregnancy outcome causing reproductive failure. Here we present a case where in accessory bi-satellited small supernumerary marker of chromosome 22p origin in the oligoasthenospermic (infertile) male partner, results in lethality of fetus due to the errors in meiotic segregation. We discuss its mechanism of iso-chromosome formation and occurrence of partial tetrasomy of chromosome 22p due to four fold dosage of centromeric sequences where in the rest of the chromosomal region of 22q is deleted including Di-George, leading to the absence of cardiac activity in fetus and subsequently miscarriage(s) in the first trimester in the female partner.

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Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism

Cited by 7 publications

References 19 publications

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems

Fetal Loss: A Genetic Insight of the De Novo Accessory Bi-Satellited Marker of Chromosome 22P

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