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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Autores principales:	Bhupendra Singh, Aparajita Singh Chauhan, Shailendra Prasad Verma, Anil Kumar Tripathi, Swasti Sinha
Formato:	article
Lenguaje:	EN
Publicado:	JCDR Research and Publications Private Limited 2021
Materias:	bone marrow failure cyclosporine cytogenetic abnormalities karyotyping Medicine R
Acceso en línea:	https://doaj.org/article/1ccc5d6c0bf64b628b55dcaab474364f
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spelling	oai:doaj.org-article:1ccc5d6c0bf64b628b55dcaab474364f2021-11-10T05:15:45ZA Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia10.7860/JCDR/2021/50176.153892249-782X0973-709Xhttps://doaj.org/article/1ccc5d6c0bf64b628b55dcaab474364f2021-09-01T00:00:00Zhttps://www.jcdr.net/articles/PDF/15389/50176_CE[Ra1]_F[SK]_PF1(SG_KM)_PFA(SG_KM)_PN(KM).pdfhttps://doaj.org/toc/2249-782Xhttps://doaj.org/toc/0973-709XAplastic 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 implicationsBhupendra SinghAparajita Singh ChauhanShailendra Prasad VermaAnil Kumar TripathiSwasti SinhaJCDR Research and Publications Private Limitedarticlebone marrow failurecyclosporinecytogenetic abnormalitieskaryotypingMedicineRENJournal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp GD01-GD03 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	bone marrow failure cyclosporine cytogenetic abnormalities karyotyping Medicine R
spellingShingle	bone marrow failure cyclosporine cytogenetic abnormalities karyotyping Medicine R 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
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
format	article
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
title	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_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_sort	unique constitutional robertsonian translocation t(13;14) associated with severe aplastic anaemia
publisher	JCDR Research and Publications Private Limited
publishDate	2021
url	https://doaj.org/article/1ccc5d6c0bf64b628b55dcaab474364f
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A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia

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