4.3 Article

Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10)

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Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome

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Summary: 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 were presented. The case involved a 33-year-old woman with a previous child with Down syndrome and a karyotype revealing a 2.604 Mb duplication of 15q25.2-q25.3 in addition to trisomy 21. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were useful for identifying the nature and parental origin of the aberrant chromosomes, respectively.

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