Case 446 -- Cytogenetic Interpretation


CYTOGENETIC INTERPRETATION:

84-86,XX,der(X;10)(p10;q10)x2,+X,+X,der(1)t(1;7)(p32;p13)x2,der(4;8)(p10;q10)t(8;?)(q24.1;?)x2,del(9)(p21)x2,der(9)t(9;13) (p21;q13)x2,der(11)t(4;11)(q21;p15)x2,der(12;15)(p10;q10)x2,der(12;21)(p10;q10)x2,-13,-13,t(14;19)(q32;q13.1)x2,der(16)t(?3;16) (q21;q22)x2, add(17)(p11.2)x2,hsr(18)(q21)x2,der(20)t(?11;20)(p13;p11.2)x2,-22,+3r[19]

These abnormalities include two copies of each of the following abnormal chromosomes: an abnormal chromosome apparently derived from a whole arm translocation between the short arm of the X chromosome and the long arm of chromosome 10; an abnormal chromosome 1 derived from an unbalanced translocation between the short arms of chromosomes 1 and 7; an abnormal chromosome apparently derived from a complex translocation between the short arm of chromosome 4, the long arm of an abnormal chromosome 8 which is translocated with an unknown partner at band 8q24.1; a deletion of the short arm of chromosome 9; an abnormal chromosome 9 derived from an unbalanced translocation between the short arm of chromosome 9 and the long arm of chromosome 13; an abnormal chromosome 11 derived from an unbalanced translocation between the short arm of chromosome 11 and the long arm of chromosome 4; an abnormal chromosome apparently derived from a whole arm translocation between the short arm of chromosome 12 and the long arm of chromosome 15; an abnormal chromosome apparently derived from a whole arm translocation between the short arm of chromosome 12 and the long arm of chromosome 21; what appears to be a translocation between the long arms of chromosomes 14 and 19 [t(14;19)(q32;q13.1)]; an abnormal chromosome 16 derived from an unbalanced translocation between the long arms of chromosomes 3 and 16; additional unrecognized chromatin attached to the short arm of chromosome 17; an apparent homogeneously staining region (hsr) on the median long arm of chromosome 18; an abnormal chromosome 20 derived from an unbalanced translocation between the long arms of chromosomes 11 and 20. These abnormal cells also appeared to be missing the two copies of chromosomes 13, appeared to be missing one chromosome 22 (trisomy22) and had two or three small ring chromosomes. Loss of chromosome 13 along with the der(9)t(9;13) results in fragmental disomy 13 from pter to q13.

FINAL DIAGNOSIS



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