| 1 |
2022 |
Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature. |
--- |
| 2 |
2022 |
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. |
--- |
| 3 |
2022 |
The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes. |
aCGH, FISH, OGM |
| 4 |
2021 |
Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report. |
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| 5 |
2021 |
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing. |
aCGH, FISH, NGS |
| 6 |
2021 |
Small supernumerary marker chromosomes derived from chromosome 14 and/or 22. |
ad 2 |
| 7 |
2021 |
Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC). |
CMA, sSMC, WES |
| 8 |
2021 |
[Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes]. |
CMA, FISH |
| 9 |
2020 |
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes. |
NGS |
| 10 |
2020 |
Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. |
CMA, FISH |
| 11 |
2020 |
Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array. |
SNP, UPD |
| 12 |
2020 |
Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report. |
PCR |
| 13 |
2020 |
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer. |
--- |
| 14 |
2020 |
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. |
ASD, CNV-seq |
| 15 |
2019 |
A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature. |
--- |
| 16 |
2019 |
Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes. |
MicroSeq, NGS, PGT-SR |
| 17 |
2019 |
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20. |
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| 18 |
2019 |
Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review. |
--- |
| 19 |
2019 |
Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report. |
AZF, CMA |
| 20 |
2019 |
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis. |
CMA, pCNVs, VOUS |
| 21 |
2019 |
Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review. |
--- |
| 22 |
2019 |
Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization. |
CGH, CNV |
| 23 |
2019 |
The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report. |
FISH, QF-PCR |
| 24 |
2019 |
[Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome]. |
CES, FISH, SNP-array |
| 25 |
2018 |
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature. |
--- |
| 26 |
2018 |
Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics. |
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| 27 |
2018 |
Low-pass single-chromosome sequencing of human small supernumerary marker chromosomes (sSMCs) and Apodemus B chromosomes. |
--- |
| 28 |
2018 |
Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature. |
CNV, FISH, PWACR |
| 29 |
2018 |
Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human. |
ECN, Mbps, PeCR-FISH |
| 30 |
2018 |
[Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome]. |
FISH |
| 31 |
2016 |
A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement. |
--- |
| 32 |
2016 |
Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization. |
FISH, mFISH |
| 33 |
2016 |
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors. |
nAChRs |
| 34 |
2016 |
[Study of two cases of prenatally detected small supernumerary marker chromosomes]. |
FISH, SNP-array |
| 35 |
2015 |
Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man. |
--- |
| 36 |
2015 |
Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome. |
--- |
| 37 |
2015 |
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype. |
--- |
| 38 |
2014 |
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications. |
--- |
| 39 |
2014 |
Mitotic stability of small supernumerary marker chromosomes depends on their shape and telomeres - a long term in vitro study. |
--- |
| 40 |
2014 |
Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations. |
MLPA |
| 41 |
2013 |
A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: case report and literature review. |
--- |
| 42 |
2013 |
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. |
AGS |
| 43 |
2013 |
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes. |
BAC, FISH, MLPA |
| 44 |
2013 |
Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes. |
CB |
| 45 |
2013 |
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. |
array-CGH, CI, SNP |
| 46 |
2013 |
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations. |
FISH |
| 47 |
2013 |
Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord. |
--- |
| 48 |
2013 |
[Analysis of small supernumerary marker chromosome 15q11 in four infertile males]. |
FISH, MLPA, SNP-array |
| 49 |
2013 |
[Identification of human small supernumerary marker chromosomes and discussion of its research value]. |
FISH |
| 50 |
2012 |
De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features. |
FISH, SKY |
| 51 |
2012 |
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory. |
MCA |
| 52 |
2011 |
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. |
sSRCs |
| 53 |
2011 |
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. |
FISH |
| 54 |
2011 |
Characterizing small supernumerary marker chromosomes with combination of multiple techniques. |
CMA, FISH, qPCR |
| 55 |
2011 |
Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies. |
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| 56 |
2010 |
Small supernumerary marker chromosomes 1 with a normal phenotype. |
--- |
| 57 |
2009 |
A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin. |
--- |
| 58 |
2009 |
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. |
FISH |
| 59 |
2009 |
dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. |
Mb |
| 60 |
2009 |
Handling small supernumerary marker chromosomes in prenatal diagnostics. |
--- |
| 61 |
2009 |
Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems. |
--- |
| 62 |
2007 |
A case report of a meiotic segregation study on a small supernumerary marker chromosome. |
sSMC, UPD |
| 63 |
2007 |
Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success. |
FISH |
| 64 |
2007 |
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. |
BAC, M-FISH, MCB |
| 65 |
2006 |
The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. |
FISH |
| 66 |
2005 |
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. |
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