Genetic Disorders and Karyotypes

Flashcards summarizing key concepts regarding genetic disorders, karyotypes, and related terms.

What is a genome?

The full set of genetic information an organism carries in DNA.

What is a karyotype?

A chromosome map that shows the complete diploid set of chromosomes together in pairs.

How many pairs of chromosomes are in a human karyotype?

There are 23 pairs, totaling 46 chromosomes.

What are autosomes?

Pairs #1-22 of chromosomes in a karyotype.

What is nondisjunction?

A common error in meiosis where chromosomes fail to separate properly.

What are common conditions caused by chromosomal disorders?

Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Klinefelter Syndrome (XXY), and Turner’s Syndrome (Monosomy X).

What characteristic defines Down Syndrome?

It is caused by an extra copy of chromosome 21 (Trisomy 21).

What does Klinefelter Syndrome result from?

It results from having an extra X chromosome (XXY).

What is Turner’s Syndrome?

A chromosomal disorder resulting from the absence of one X chromosome (Monosomy X).

What chromosomal error does Edwards Syndrome involve?

An extra copy of chromosome 18 (Trisomy 18).