Taiwanese Journal of Obstetrics and Gynecology, 2020 Objective: To present molecular cytogenetic characterization of mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p12-q21.13 associated with congenital hypoplasia of the tongue and review of the literature.
Hui-Yuan Shao +4 more
exaly +4 more sources
Taiwanese Journal of Obstetrics and Gynecology, 2017 Objective: We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)].
Ming Chen, Shih-Ting Lai, Liang-Kai Wang
exaly +4 more sources
Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally [PDF]
Case Reports in Obstetrics and Gynecology, 2018 We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation.
Akihiro Hasegawa +9 more
doaj +3 more sources
Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 8 [PDF]
Taiwanese Journal of Obstetrics and Gynecology, 2010 Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization
Ming Chen, Ming-Song Tsai, Fuu-Jen Tsai
exaly +4 more sources
Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X [PDF]
Genes, 2023 Turner Syndrome is characterized by a normal X chromosome and the partial or complete absence of a second sexual chromosome. Small supernumerary marker chromosomes are present in 6.6% of these patients.
exaly +3 more sources
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing [PDF]
Biomedicines, 2021 Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10)
Igor N. Lebedev +13 more
doaj +2 more sources
Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report [PDF]
International Journal of Reproductive BioMedicine, 2021 Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes.
Reza Mohammadi +8 more
doaj +2 more sources
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature [PDF]
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
doaj +2 more sources
Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study [PDF]
Case Reports in MedicineThis case report describes a 39-year-old phenotypically normal male patient of a married couple with primary infertility presenting as candidates for assisted reproductive techniques.
Filomena Mottola +4 more
doaj +2 more sources
Taiwanese Journal of Obstetrics and Gynecology, 2017 Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. Case report: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of
Shih-Ting Lai +2 more
exaly +3 more sources