Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea
We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FIS...
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/212065 |
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| author | Usha R. Dutta Vijaya Kumar Pidugu Ashwin Dalal |
| author_facet | Usha R. Dutta Vijaya Kumar Pidugu Ashwin Dalal |
| author_sort | Usha R. Dutta |
| collection | DOAJ |
| description | We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype. |
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| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-acee657fc832485cbe4a3dd0329992ee2025-02-03T01:33:27ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/212065212065Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and AmenorrheaUsha R. Dutta0Vijaya Kumar Pidugu1Ashwin Dalal2Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Andhra-Pradesh Hyderabad 500 001, Andhra-Pradesh, IndiaDiagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Andhra-Pradesh Hyderabad 500 001, Andhra-Pradesh, IndiaDiagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Andhra-Pradesh Hyderabad 500 001, Andhra-Pradesh, IndiaWe report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.http://dx.doi.org/10.1155/2012/212065 |
| spellingShingle | Usha R. Dutta Vijaya Kumar Pidugu Ashwin Dalal Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea Case Reports in Genetics |
| title | Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea |
| title_full | Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea |
| title_fullStr | Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea |
| title_full_unstemmed | Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea |
| title_short | Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea |
| title_sort | molecular cytogenetic characterization of a non robertsonian dicentric chromosome 14 19 identified in a girl with short stature and amenorrhea |
| url | http://dx.doi.org/10.1155/2012/212065 |
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