The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype

Wang, Hongying; Wang, Ting; Yang, Naichao; He, Yuan; Chen, Linqi; Hong, L. Elliot; Shao, Xuejun; Li, Hong; Zhu, Hong; Li, Haibo

doi:10.3892/ol.2017.5965

Cited by 7 publications

(8 citation statements)

References 21 publications

(25 reference statements)

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“…In case P4, CMA analysis revealed one gain and two losses in different chromosomes, in addition to a 1.3 Mb gain at 2q32.1q32.2 that involved five OMIM genes [ GULP1( 608165) , DIRC1 (606423) , COL3A1 (120180) , COL5A2 (120190), and SLC40A11 (604653)] and an additional 125 Mb loss at Xp22.12-qter that involved four OMIM genes ( MECP2 , GRIA3 , AFF2 , and MAMLD1 ). In addition to cat eye syndrome (P8) [ 7 ], we also detected CNVs associated with tetrasomy 9p (P27) [ 8 ] and Pallister-Killian syndrome (P15) [ 9 ], as well as Turner syndrome (TS) [ 10 ].…”

Section: Resultsmentioning

confidence: 99%

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

et al. 2019

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BackgroundThis study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations.ResultsThirty-three cases carrying sSMCs were identified by banding cytogenetics. Of these cases, twenty-nine were first characterized by CMA and only two by FISH. The remaining two cases were excluded for their refusal to accept further examination. The chromosomal origins of twenty-two cases were successfully identified, in which pathogenetic copy number variations (PCNVs) were found in sixteen cases, four cases showed variants of uncertain significance (VOUS), one case showed benign CNVs, and one case showed probable PCNVs. For the nine cases with negative CMA results, only one of them contained centromere heterochromatin likely due to its normal phenotype, whereas reasons for the remaining eight cases were uncertain. We also found that CMA results indicating pathogenic abnormalities further affect the rate of pregnancy termination.ConclusionsThis study showed that CMA combined with cytogenetic analysis is particularly effective in identifying sSMCs. However, in order to establish sSMC-related genotype-phenotype correlations, the inclusion of more sSMC cases will be necessary in future studies.

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Section: Resultsmentioning

confidence: 99%

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

et al. 2019

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“…Nearly all sSMC T s are confirmed to be a derivative of chromosome X or Y, and approximately 72.6% originate from Y, while most sSMC T (Y) are from isodicentric chromosomes. A further 27% originate from the X chromosome with a majority of sSMC T s(X) determined to be ring chromosomes [ 27 ]. The remaining 0.4% are derived from autosomal chromosomes [ 28 ] and may be responsible for the TS phenotypes or gonadal dysgenesis.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

Xue

Lin

et al. 2020

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Small supernumerary marker chromosomes cannot be accurately identified by G-banding, and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene content of marker chromosomes using molecular cytogenetic techniques. Herein, three fetuses with de novo marker chromosomes were initially identified by G-banding. Single nucleotide polymorphism array and fluorescence in situ hybridization were performed to characterize the origins of the marker chromosomes. The karyotypes of the three fetuses were 47,XY,+mar, 46,X,+mar[32]/45,X[68], and 45,X[62]/46,X,+mar[9]. In case 1, the karyotype was confirmed as 47,XY,+ idic(22)(q11.2). Therefore, the sSMC originated from chromosome 22 and was associated with cat eye syndrome. In case 2, the marker chromosome derived from ring chromosome X, and the karyotype was interpreted as 45,X[68]/46,X,+r(X)(p11.1q21.31)[32]. Meanwhile, the karyotype of case 3 was defined as 45,X[62]/46,X,idic(Y)(q11.2) and the marker chromosome originated from chromosome Y. Case 1 continued the pregnancy, whereas the other two pregnancies underwent elective termination. The detailed characterization of marker chromosomes can facilitate informed decision making, prevent uncertainty, and provide proper prognostic assessments. Our findings emphasize the importance for combining cytogenetic and molecular genetic techniques in marker chromosome characterization.

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“…Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that cannot be clearly characterized by conventional cytogenetic banding (5). While the incidence rate of sSMCs is 0.3-0.5/1,000 in the normal population, this occurrence is up to 0.125% in patients with fertility problems, with a male-to-female ratio of 7.5:1 (1).…”

Section: Introductionmentioning

confidence: 99%

Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report

et al. 2020

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Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre-or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected in subfertile individuals. The present study reports the case of a male patient with oligoasthenoteratozoospermia and an sSMC. The sSMC was identified and characterized according to G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis. Chromosomal karyotype analysis suggested that the patient presented with 47,XY,+mar. CMA was used to characterize the sSMC, which revealed a 0.44-Mb microduplication in 6q25.3q26. Subsequently, FISH using centromere-specific probes for chromosomes 13/21, 14/22 and 15 was applied to identify the origin of the sSMC, which was finally determined to be inverted duplicated(15) (q11.2). It was hypothesized that heterochromatin in the sSMC is responsible for the patient's fertility problem. The presence of heterochromatin may disrupt regular meiosis, thereby affecting normal spermatogenesis. Impaired spermatogenesis in infertile males with an sSMC derived from chromosome 15 was also reviewed by searching published literature and the sSMC database (http://ssmc-tl.com/sSMC.html). For patients with low sperm parameters and complete absence of spermatozoa in the ejaculate, including infertile males with an sSMC with spermatozoa, intracytoplasmic sperm injection is considered as an effective assisted reproductive technique. It may be concluded that molecular cytogenetic techniques are critical tools for delineating sSMCs in infertile males and may be beneficial in identifying sSMC carriers to ensure they receive clinical genetic counseling.

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The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype

Cited by 7 publications

References 21 publications

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report

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