A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia
Aplastic anaemia is characterised by cytopenias and hypocellular bone marrow without any evidence of marrow fibrosis or marrow infiltration. There is no specific cytogenetic abnormality associated with aplastic anaemia. Most common abnormalities are trisomies of chromosome 6, 8 and loss of 7. A 17...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2021-09-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/15389/50176_CE[Ra1]_F[SK]_PF1(SG_KM)_PFA(SG_KM)_PN(KM).pdf |
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| author | Bhupendra Singh Aparajita Singh Chauhan Shailendra Prasad Verma Anil Kumar Tripathi Swasti Sinha |
| author_facet | Bhupendra Singh Aparajita Singh Chauhan Shailendra Prasad Verma Anil Kumar Tripathi Swasti Sinha |
| author_sort | Bhupendra Singh |
| collection | DOAJ |
| description | Aplastic anaemia is characterised by cytopenias and hypocellular bone marrow without any evidence of marrow fibrosis or marrow
infiltration. There is no specific cytogenetic abnormality associated with aplastic anaemia. Most common abnormalities are
trisomies of chromosome 6, 8 and loss of 7. A 17-year-old female, presented with generalised weakness, exertional breathlessness
and menorrhagia for last six months. She also gave a history of 12 units Packed Red Blood Cells (PRBC) transfusion, at the rate
of 2-3 units per month in the last five months. Routine haematology showed severe pancytopenia with reticulocytopenia. Bone
marrow evaluation revealed hypoplastic marrow with 15% bone marrow cellularity suggesting aplastic anaemia. Karyotyping using
Giemsa (GTG) banding of unstimulated culture showed a very unique constitutional Robertsonian Translocation (RT) karyotype
45+XX, der(13;14)(q10;q10). Patient responded partially to treatment with cyclosporine and anabolic steroids. The final diagnosis
was severe aplastic anaemia associated with constitutional RT t(13;14) karyotype. Although cytogenetic abnormalities are neither
common nor specific in aplastic anaemia, some of them can have diagnostic and therapeutic implications |
| first_indexed | 2024-12-20T00:15:11Z |
| format | Article |
| id | doaj.art-1ccc5d6c0bf64b628b55dcaab474364f |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-20T00:15:11Z |
| publishDate | 2021-09-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-1ccc5d6c0bf64b628b55dcaab474364f2022-12-21T20:00:23ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2021-09-01159GD01GD0310.7860/JCDR/2021/50176.15389A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic AnaemiaBhupendra SinghAparajita Singh ChauhanShailendra Prasad VermaAnil Kumar TripathiSwasti SinhaAplastic anaemia is characterised by cytopenias and hypocellular bone marrow without any evidence of marrow fibrosis or marrow infiltration. There is no specific cytogenetic abnormality associated with aplastic anaemia. Most common abnormalities are trisomies of chromosome 6, 8 and loss of 7. A 17-year-old female, presented with generalised weakness, exertional breathlessness and menorrhagia for last six months. She also gave a history of 12 units Packed Red Blood Cells (PRBC) transfusion, at the rate of 2-3 units per month in the last five months. Routine haematology showed severe pancytopenia with reticulocytopenia. Bone marrow evaluation revealed hypoplastic marrow with 15% bone marrow cellularity suggesting aplastic anaemia. Karyotyping using Giemsa (GTG) banding of unstimulated culture showed a very unique constitutional Robertsonian Translocation (RT) karyotype 45+XX, der(13;14)(q10;q10). Patient responded partially to treatment with cyclosporine and anabolic steroids. The final diagnosis was severe aplastic anaemia associated with constitutional RT t(13;14) karyotype. Although cytogenetic abnormalities are neither common nor specific in aplastic anaemia, some of them can have diagnostic and therapeutic implicationshttps://www.jcdr.net/articles/PDF/15389/50176_CE[Ra1]_F[SK]_PF1(SG_KM)_PFA(SG_KM)_PN(KM).pdfbone marrow failurecyclosporinecytogenetic abnormalitieskaryotyping |
| spellingShingle | Bhupendra Singh Aparajita Singh Chauhan Shailendra Prasad Verma Anil Kumar Tripathi Swasti Sinha A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia Journal of Clinical and Diagnostic Research bone marrow failure cyclosporine cytogenetic abnormalities karyotyping |
| title | A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia |
| title_full | A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia |
| title_fullStr | A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia |
| title_full_unstemmed | A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia |
| title_short | A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia |
| title_sort | unique constitutional robertsonian translocation t 13 14 associated with severe aplastic anaemia |
| topic | bone marrow failure cyclosporine cytogenetic abnormalities karyotyping |
| url | https://www.jcdr.net/articles/PDF/15389/50176_CE[Ra1]_F[SK]_PF1(SG_KM)_PFA(SG_KM)_PN(KM).pdf |
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