Asymmetrical, reciprocal translocation (45,XX,tdic(9;17) (p21;p12)

Journal of Mental Deficiency Research
C WaldenmaierW Hirsch

Abstract

A nine-month-old girl with dysmorphic features, congenital heart disease and chromosomal mosaicism is reported. Approximately one-half of the cells (lymphocytes and fibroblasts) showed a normal karyotype 46, XX, the other half a dicentric translocation chromosome. Using the G-band technique, the dicentric chromosome was identified as a 9/17 translocation chromosome. Both centromeres of the translocation chromosome could be stained to the same degree, using the C-band technique. The centromere region of chromosome No. 9 was in addition demonstrated, by using the Giemsa 11 technique.

References

Jan 1, 1971·Cytogenetics·F E Arrighi, T C Hsu
Mar 1, 1973·Journal of Medical Genetics·M M CohenT A Aceto
Jul 1, 1970·Annals of Human Genetics·R AngellP E Polani
Feb 1, 1968·American Journal of Diseases of Children·M M CohenE K Harrod
Jan 1, 1966·Hereditas·A De la ChapelleC H Ockey
Dec 1, 1961·Journal of Cellular and Comparative Physiology·S WOLFF
Jan 1, 1963·Cytogenetics·D T ARAKAKI, R S SPARKES
Jan 1, 1961·Advances in Genetics·B A KIHLMAN
Mar 1, 1952·Genetics·E R Sears, A Câmara

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