An update on small supernumerary marker chromosomes (sSMC) [PDF]
Research Results in Biomedicine, 2019 Here we provide an update on the present knowledge on sSMC formation, shape, content and clinical ...
Liehr, T., Liehr, L. B.
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Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report. [PDF]
Clin Case RepABSTRACT Small supernumerary marker chromosomes (sSMC) constitute a rare group of structural chromosomal abnormalities characterized by additional genetic material that cannot be identified by conventional banding cytogenetics. The incidence of sSMC is extremely rare, and most are expected to have no clinical phenotypic abnormalities.
Alayed Y +8 more
europepmc +3 more sources
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature [PDF]
Cytogenetic and Genome Research, 2007 Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively.
Aktas, D. +12 more
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Molecular Cytogenetics, 2012 Background Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic content and shape by molecular cytogenetic approaches.
Klein Elisabeth +6 more
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Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis [PDF]
Molecular Cytogenetics, 2011 Background Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques.
Hamers Guus +5 more
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A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. [PDF]
Molecular Cytogenetics, 2014 BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats.
Karcagi, Veronika +11 more
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Outcome of Preterm Labour in SSMC Mitford Hospital, Dhaka.
Medicine Today, 2021 Introduction: : Preterm birth as a consequence of preterm labour is the major clinical problem associated with perinatal mortality, serious neonatal morbidity and moderate to severe childhood disability and two-thirds of all perinatal deaths. Moreover, preterm labour comprises a large number of low birth weight babies.
Mamata Manjari +5 more
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Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC) [PDF]
BioMed Research International, 2021 Small supernumerary marker chromosomes (sSMCs) are a group of rare chromosomal anomalies, which pose challenges in the clinical practice of prenatal diagnosis and genetic counseling. This study enrolled an extended family with an underage male patient displaying infantile seizures, intellectual disability, and retarded speech and psychomotor function ...
Huan-xia Xing +5 more
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Isolated congenital anosmia unaccompanied by a syndrome or familial history
Otolaryngology Case Reports, 2023 A small minority of patients with anosmia are classified as having congenital anosmia, which can be described as an absence of olfactory sensations since birth, in the absence of any pathologies known to cause anosmia.
Ghanaym AlMazrouei +2 more
doaj +1 more source
Molecular Cytogenetics, 2021 Background Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally retarded patients.
Eleonora Marchina +8 more
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