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Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia
المؤلفون المشاركون
Modi, Anar
Alagusundaramoorthy, Sayee Sundar
Ghali, Wael
Agrawal, Abhinav
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-09-01
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
A 20 year old male was initially diagnosed suffering from Primary ciliary dyskinesia with symptoms of bronchiectasis, severe frontal, maxillary and ethmoid sinus disease.
At the age of 20, the patient was also diagnosed with Myelodysplastic syndrome requiring Bone marrow transplant due to the advanced stage at time of presentation.
Primary ciliary dyskinesia and Myelodsyplastic syndrome are both rare clinical conditions found in the general population, especially in young adults.
This rare combination of disorders has never been reported in literature to the best of the author’s knowledge.
The presence of an advanced cancer and a genetic abnormality due to two deletions occurring in two arms of the same chromosome can be explained on the base of chromothripsis.
A number of evidences have been published in the literature, about multiple deletions in chromosome 5 and advanced stages of MDS being associated with chromothripsis however this is the first case report on two deletions in chromosome 7 giving rise to two different clinical entities requiring multiple modes of management.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Agrawal, Abhinav& Modi, Anar& Alagusundaramoorthy, Sayee Sundar& Ghali, Wael. 2014. Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia. Case Reports in Hematology،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1034741
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Agrawal, Abhinav…[et al.]. Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia. Case Reports in Hematology No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-1034741
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Agrawal, Abhinav& Modi, Anar& Alagusundaramoorthy, Sayee Sundar& Ghali, Wael. Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia. Case Reports in Hematology. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1034741
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1034741
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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