What chromosomal condition is most associated with the karyotype 46,XX,der(14;21)(q10;q10),+21?

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,XX,der(14;21)(q10;q10),+21 indicates the presence of an additional chromosome 21, which is characteristic of Down syndrome, also known as trisomy 21. In this specific karyotype, the notation “+21” signifies that there is an extra copy of chromosome 21, leading to the genetic condition known as Down syndrome.

The term "der(14;21)" signifies a derivate chromosome resulting from a translocation between chromosomes 14 and 21, which can occur when there is a Robertsonian translocation. A Robertsonian translocation can lead to Down syndrome if it involves chromosome 21 and can cause individuals to inherit an extra chromosome 21 in a viable gamete.

Understanding the genetic basis of Down syndrome is crucial, as it helps in identifying affected individuals and providing appropriate care and support.

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