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Cytogenetics and polymerase chain reaction (PCR) based assays provide important information regarding biologically defined and prognostically relevant subgroups in acute leukemias. We utilized karyotyping and molecular analysis by reverse transcriptase PCR for the BCR-ABL translocation, in addition to morphological study, cytochemistry and immunophenotyping, to study 24 cases of pediatric acute lymphoblastic leukemia (ALL). Our objective was to determine the frequency of the BCRABL translocation in childhood ALL from southern India. Karyotyping showed one case of hyperdiploidy, one case of t (12; 21) translocation and one case of 46, XY-21?mar. The BCR-ABL translocation was found in 8.3% of these cases. One of these was a cryptic translocation, the karyotype being normal. BCR-ABL positivity in ALL is associated with aggressive disease and has been shown to be a poor prognostic factor, especially in children.

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Translocations involving X chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women. X-autosome translocations are frequently associated with primary or secondary ovarian failure and at times Turner syndrome-like features if there is an involvement of the critical region of Xq13-q26. A 19-year-old proposita with a complaint of amenorrhea was found to have hypoplastic uterus and streak ovaries. Hormonal profile revealed hypergonadotropic hypogonadism. Chromosomal analysis of 25 conventionally stained metaphases revealed the karyotype to be 46,X,t(X;7)(q13;p15)de novo. This rare finding is the first report from India, to the best of our knowledge. She also exhibited the maternally inherited heteromorphic variant of chromosome 21. The occurrence of t(X;7) in the proposita with hypergonadotropic amenorrhea confirms the role of X-autosome translocations in ovarian dysfunction.