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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. 10, No. 2, 2004, pp. 78-80
Bioline Code: hg04018
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 10, No. 2, 2004, pp. 78-80

 en Case Report - AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q)
Bakshi Sonal R., Roy Shambhu K., Trivedi Pina J., Brahmbhatt Manisha M., Rawal Shwetal M., Kakadia Purvi M., Bhatt Samarth S.


We report a case of Acute Myeloid Leukemia with clinical features suggestive of AML-M3 and 46,XX,t(8;21),del(9q),der(18)t(1;18) karyotype leading to the final diagnosis AML-M2 in light of t(8;21). The Deletion (9q) is a frequent secondary anomaly to the t(8;21)(q22;q22) in AML-M2. In addition to these two AML-M2 related rearrangements we also observed der(18)t(1;18)(q2?;p11.3) which may be an unusual rearrangement. This rearrangement resulted into partial trisomy of chromosome #1(q2?) without the loss of any part of chromosome 18, morphologically. Rearrangements of long arm of chromosome 1 that result in complete or partial trisomy for 1q mostly involved the region q25-q32, which may confer a proliferation advantage.

Acute Myeloid leukemia M-2, Karyotyping, Fluorescence In Situ Hybridization, der(18)t(1;18)(q2?;p11.3),t(8;21),del(9q)

© Copyright 2004 Indian Journal of Human Genetics.
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