title: A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker.
abstract: Supernumerary marker chromosomes (SMC) are heterogeneous group of chromosomes which are reported in variable phenotypes. Approximately 70% originate from acrocentric chromosomes. Here we report a couple with recurrent miscarriages and a SMC originating from an acrocentric chromosome. The cytogenetic analysis of the husband revealed a karyotype of 47,XY+marker whereas the wife had a normal karyotype. Analysis of SMC with C-banding showed the presence of a big centromere in the center and silver staining showed prominent satellites on both sides of the marker. Apparently, microarray analysis revealed a 2.1 Mb duplication of 15q11.2 region but molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) with whole chromosome paint (WCP) 15 showed that the SMC is not of chromosome 15 origin. Subsequently, FISH with centromere 22 identified the SMC to originate from chromosome 22 which was also confirmed by WCP 22. Additional dual FISH with centromere 22 and Acro-p-arm probes confirmed the centromere 22 and satellites on the SMC. Further fine mapping of the marker with Bacterial Artificial Chromosome (BAC) clones; two on chromosome 22 and four on chromosome 15 determined the marker to possess only centromere 22 sequences and that the duplication 15 exists directly on chromosome 15. In our study, we had identified and characterized a SMC showing inversion duplication 22(p11.1) combined with a direct tandem duplication of 15q11.2. The possible genotype-phenotype in relation with the two rearrangements is discussed.
authors: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India. Electronic address: ushadutta@hotmail.com.
authors: Usha R
authors: UR
authors: Dutta
authors: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
authors: Subhash
authors: S
authors: Vempally
authors: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
authors: Prajnya
authors: P
authors: Ranganath
authors: Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
authors: Ashwin
authors: A
authors: Dalal
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics; D007446:Chromosome Inversion / Q000235:genetics; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers
keywords: BAC clones; Bisatellited; FISH; Recurrent miscarriages; Supernumerary marker chromosome