Results 11 to 20 of about 874,608 (238)
Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age [PDF]
Clinical Medicine Insights: Case Reports, 2015 The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age.
Bruna C. S. Melo +4 more
doaj +3 more sources
Small supernumerary marker chromosomes derived from human chromosome 11 [PDF]
Frontiers in Genetics, 2023 Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition.Methods: Herein, we present a review of reported sSMC(11),
Thomas Liehr +10 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2010 Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor ...
Chih-Ping Chen +10 more
doaj +2 more sources
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man [PDF]
Molecular Cytogenetics, 2008 Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting ...
Rodríguez Laura +5 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2017 Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11.
Chih-Ping Chen +9 more
doaj +2 more sources
A case of isodicentric chromosome 15 presented with epilepsy and developmental delay [PDF]
Korean Journal of Pediatrics, 2012 We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay.
Jon Soo Kim +9 more
doaj +1 more source
Unexpected results in the constitution of small supernumerary marker chromosomes [PDF]
, 2012 Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements.
Vetro, A. +13 more
core +4 more sources
Frontiers in Genetics, 2022 A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases.
Pascale Kleinfinger +8 more
doaj +1 more source
Egyptian Journal of Medical Human Genetics, 2021 Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the duplication/triplication.
Natalya A. Lemskaya +4 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome. Case report: A 33-year-old, gravida 4,
Chih-Ping Chen +8 more
doaj +1 more source