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Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review.
- Source :
-
Gene . Oct2013, Vol. 529 Issue 1, p169-175. 7p. - Publication Year :
- 2013
-
Abstract
- 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. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 03781119
- Volume :
- 529
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Gene
- Publication Type :
- Academic Journal
- Accession number :
- 90093587
- Full Text :
- https://doi.org/10.1016/j.gene.2013.07.048