Case 256 -- 16 y/o Girl with Right Chest and Right Foot Masses


Karyotype Composite

Karyotype: 87-97, XXXX, -X[3], -X, -X[4], t(2;13)(q35;q14)x2, +8[7], +9[5], del(14)(q24)x2, -16, +17, +18[cp8]/46, XX[9]/92, XXXX[cp3]

Female karyotype with multiple acquired structural and numerical abnormalities including t(2;13)(q35;q14).

Twenty cells were analyzed. Twelve cells contained a normal female chromosome complement. Eight cells had between 87 and 97 chromosomes. These cells contained between 2 and 4 copies of the X chromosome; two copies of the translocation between the q arm of chromosome #2 and the q arm of chromosome #13 with breakage and reunion at 2q35 and 13q14; as well as two copies of the chromosome #14 with apparent deletion involving q24-qter region. In addition, several cells with the above abnormalities also contained trisomy 8, trisomy 9, monosomy 16, trisomy 17, and trisomy 18.

The cells with the normal karyotype are representative of the constitutional karyotype. The cells with multiple abnormalities represent the tumor cells with acquired clonal abnormalities.

The hypodiploidy in the diploid cells was random. Two cells with chromosome count in the tetraploid range with no structural abnormalities were observed. No other significant numerical or structural aberrations were seen at the 500 band level of resolution.


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