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1.
Indian J Hum Genet ; 2011 Sept; 17(3): 235-237
Artigo em Inglês | IMSEAR | ID: sea-138970

RESUMO

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).


Assuntos
Criança , Citogenética/métodos , Humanos , Cariótipo , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/genética
2.
Indian J Pediatr ; 2010 Dec ; 77 (12): 1440-1442
Artigo em Inglês | IMSEAR | ID: sea-157202

RESUMO

Tuberculosis of the skeletal muscle is very rare which is often missed in the early stages. This leads to delay in treatment resulting in irreversible limb deformity and loss of function. The authors describe a case of healthy child with an intramuscular cystic swelling above the elbow joint. The pus showing acid fast bacilli morphologically resembling Mycobacterium tuberculosis was also isolated in culture. Following the diagnosis and confirmation, the child was treated successfully with anti tubercular drugs.

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