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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 3, 2011, pp. 235-237
Bioline Code: hg11049
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 3, 2011, pp. 235-237

 en Acute promyelocytic leukemia with unusual karyotype
Gowri, Mangala; Kousar Jahan, S K.; , Kavitha; , Prasannakumari; , Madhumathi & Appaji, L


Acute myeloid leukemia (AML-M3) is associated with the translocation t(15;17)(q22;q12-21) which disrupts the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the PML gene on chromosome 15. We report a two-year-old patient with AML-M3 without the usual translocation t(15;17). Cytogenetic studies demonstrated normal appearance of chromosome 15 while the abnormal 17 homologue was apparently a derivative 17, der(17)(17qter-cen-q21:), the rearrangement distinctly shows deletion at 17q21 band and the morphology corresponding to an iso chromosome i(17q-). This case report is a rare cytogenetic presentation of acute promyelocytic leukemia (APML).

Acute promyelocytic leukemia, karyotype, RARA

© Copyright 2011 Indian Journal of Human Genetics.
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