Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review

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.

Keywords: AFP; Amniocentesis; CNS; Chromosome 1p21.1-p12 duplication syndrome; FISH; IUGR; MCB; Mosaicism; NT; OMIM; Online Mendelian Inheritance in Man; PDA; Prenatal diagnosis; QF-PCR; SKY; Small supernumerary marker chromosome 1; UPD; VSD; aCGH; array comparative genomic hybridization; central nervous system; del; deletion; der; derivative chromosome; dup; duplication; fluorescence in situ hybridization; intrauterine growth restriction; inv; inverted; mar; marker chromosome; mat; maternal; multicolor banding; nuchal translucency; patent ductus arteriosus; quantitative fluorescent polymerase chain reaction; r; ring chromosome; sSMC; small supernumerary marker chromosome; spectral karyotyping; uniparental disomy; ventricular septal defect; α-fetoprotein.