Ring chromosome 7 in Down Syndrome with acute megakaryoblastic leukemia

Ten SK¹, Tan SK¹, Zubaidah Z¹, Khuzaiah RR², Roshida H³ 

1. Division of Haematology, Institute for Medical Research, 50588 Kuala Lumpur

2. Paediatric Institute, Hospital Kuala Lumpur

3. Department of Pathology, Hospital Kuala Lumpur

CITATION: Ten SK, Tan SK, Zubaidah Z, Khuzaiah RR, Roshida H. Ring chromosome 7 in Down Syndrome with acute megakaryoblastic leukemia. International Medical Research Journal. 1997 Dec;(2):123–5. 

Download Full Article

ABSTRACT

Ring chromosome is an unusual cytogenetic aberration in haematological malignancies and diseases which acquire it rend to be aggressive and refractory to treatment. We present here a case report of a 2-year-old Down Syndrome (DS) girl with AMKL/MDS who manifested a ring chromosome in all her bone marrow cells. Fluorescence in situ hybridization (FISH) analysis using chromosome-7- specific DNA probe verified the diagnosis of ring chromosome 7, r(7). To the best of our knowledge, this is the third reported case of r(7) in DS individuals with AMKL/MDS.

KEYWORDS: ring chromosome 7, acute megakaryoblastic, Down Syndrome