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  • Title: Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.
    Author: Chen CP, Chen M, Su YN, Huang JP, Chern SR, Wu PS, Su JW, Chang SP, Chen YT, Lee CC, Chen LF, Pan CW, Wang W.
    Journal: Gene; 2013 Oct 15; 529(1):169-75. PubMed ID: 23933412.
    Abstract:
    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.
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