{Reference Type}: Journal Article
{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
{Volume}: 529
{Issue}: 1
{Year}: Oct 2013 15
{Factor}: 3.913
{DOI}: 10.1016/j.gene.2013.07.048
{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.