%0 Journal Article
%T Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
%A Arturo Anguiano
%A Boris T Wang
%A Shirong R Wang
%A Fatih Z Boyar
%A Loretta W Mahon
%A Mohamed M El Naggar
%A Peter H Kohn
%A Mary H Haddadin
%A Vladimira Sulcova
%A Adam H Sbeiti
%A Mervat S Ayad
%A Beverly J White
%A Charles M Strom
%J Molecular Cytogenetics
%D 2012
%I BioMed Central
%R 10.1186/1755-8166-5-3
%X Spectral karyotyping is an invaluable diagnostic tool in constitutional studies for identifying marker chromosomes and chromosomal exchanges that are not fully defined by conventional cytogenetic methods [1,2]. This is especially true in cases involving de novo small supernumerary marker chromosomes (sSMCs) and derivative chromosomes [3-6]. Such definitive karyotyping is important in assessing risk for phenotypic abnormalities, especially for prenatal situations [7,8]. The ability to identify the origin of additional genetic materials is very important for providing information to couples in regard to the potential phenotypic and/or developmental effect of a de novo rearrangement. Similarly, in evaluation of infertility, the identification of derivative chromosomal material may shed light on the mechanism of infertility [9,10].Although spectral karyotyping was developed more than a decade ago, few large-scale studies have assessed its ability to further resolve constitutional chromosomal rearrangements initially identified with conventional GTG-banding (G-banding) cytogenetic analysis. The primary aim of this study was to assess the utilization of spectral karyotyping for resolving chromosome abnormalities that are not well delineated by conventional G-banding.We reviewed the results of spectral karyotyping and confirmatory FISH testing performed on 179 consecutive clinical specimens (31 prenatal and 148 postnatal specimens) submitted to our national reference laboratory. In both prenatal and postnatal settings, the most common indication for spectral karyotyping analysis was the presence of chromosomal material not defined by conventional G-banding. Chromosomal abnormalities included unidentified marker chromosomes, additional rearranged material of unknown origin, ring chromosomes, and various complex rearrangements.The spectral karyotyping assay protocol recommended by the vendor (Applied Spectral Imaging, Carlsbad, CA) was followed. Emphasis was placed on the ex
%K Spectral Karyotyping
%K Marker Chromosome
%K FISH
%K array CGH
%U http://www.molecularcytogenetics.org/content/5/1/3