Which term describes the karyotype 46,XY,der(9)(t(9;10)(q32;q12)?

Prepare for the International Technologist in Cytogenetics ASCP exam with comprehensive flashcards and practice questions. Each question is accompanied by hints and explanations. Ace your test with confidence!

The karyotype 46,XY,der(9)(t(9;10)(q32;q12) represents a situation where a derivative chromosome 9 has formed due to a translocation between chromosomes 9 and 10. The presence of a translocation indicates that genetic material has been rearranged. In this case, since the translocation does not appear to maintain the normal dosage of genetic material from both chromosomes involved, it is classified as unbalanced.

In a balanced translocation, genetic material is rearranged without any loss or gain of genetic content, which is not the case here, as the rearrangement has resulted in the derivative chromosome, leading to a potential gene dosage effect. This is why it is specifically characterized as unbalanced rather than stable (which refers to a karyotype that does not change over time), balanced, or normal (which indicates no chromosomal aberrations). The presence of a derivative chromosome implies a disturbance in normal chromosomal structure and function, characteristic of an unbalanced karyotype.

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