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  1. 46,XX,der(2),t(2;8)(p13;q12)pat
    • female
    • result of abnormal segregation during meiosis in her father who is the carrier of a balanced 2;8 translocation
    • has only one normal number 2 chromosome
    • second 2 chromosome is a derivative chromosome consisting of chromosome 2 material from the tip of the long arm to band p13. The material distal to band p13 is from chromosome 8 (long arm material from q12 to the tip of 8q). Since two normal number 8 chromosomes are present, this patient has partial monosomy 2p and partial trisomy 8q.
  2. 47,XXX
  3. female with three X chromosomes (triple X)
  4. 47,XX,+8
  5. female with trisomy 8
  6. 45,XX,der(13;14)(q10;q10)
  7. female who is a balanced carrier for a 13-14 Robertsonian translocation
  8. 46,XX,+13,der(13;14)(q10;q10)mat
  9. female with trisomy 13 secondary to a 13-14 Robertsonian translocation inherited from her mother.
  10. 46,XY,t(2;8)(p13;q12)
    a male with an apparently balanced reciprocal translocation between chromosomes 2 and 8. The breakpoints are on chromosome 2 at p13 and on chromosome 8 at q12. Material distal to these points has been exchanged.
  11. 46,XX,r(18)(p11q22)
    female with a ring 18 chromosome. The breaks occurred in the short arm at p11 and in the long arm at q22. The two ends of the piece containing the centromere have joined to form a ring. The material distal to p11 and q22 has been lost.
  12. 46,XY,inv(13)(q13q32)de novo
    a male with a paracentric inversion of chromosome 13. The parents have been karyotyped and neither of them carries the inversion. Both breaks are in the long arm of chromosome 13, at bands q13 and q32. The material between the breaks has been inverted.
  13. 46,XX,inv(4)(p15q13)mat
    female with a pericentric inversion. The breakpoints are at band p15 (short arm) and q13 (long arm) and the material between these two breaks has been inverted. This inversion was inherited from her mother.
  14. 46,XX,del(1)(q11q21)
    • female
    • interstitial deletion of chromosome 1. The material between bands q11 and q21 (on the long arm) is missing.
  15. 46,XY,del(5)(p13)
    • male
    • 46 chromosomes
    • deletion of chromosome 5
    • terminal deletion, material distal (with respect to the centromere) to band p13 (short arm, band 13) is lost.

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2010-07-30 04:01:40

examples of nomenclature
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