Chromosomal Disorders and Numerical Variations

Flashcards covering numerical chromosomal abnormalities including hypoploidy, hyperploidy, Down Syndrome, and Klinefelter's Syndrome based on the lecture transcript.

Hypoploidy

A chromosomal variation involving the loss of chromosomes from the diploid set, including condition types such as monosomy and nullisomy.

Monosomy

A form of hypoploidy characterized by the loss of 1 chromosome, represented as $(2n - 1)$.

Nullisomy

A form of hypoploidy characterized by the loss of 2 chromosomes, represented as $(2n - 2)$.

Hyperploidy

A chromosomal variation involving the addition of chromosomes to the diploid set, including condition types such as trisomy and tetrasomy.

Trisomy

A form of hyperploidy characterized by the addition of 1 chromosome, represented as $(2n + 1)$.

Tetrasomy

A form of hyperploidy characterized by the addition of 2 chromosomes, represented as $(2n + 2)$.

Down Syndrome

A genetic disorder discovered for the first time by Langdon Down, caused by trisomy of chromosome 21 in males or females.

Klinefelter's Syndrome

A chromosomal disorder in males caused by the addition of 1 X-chromosome via an $(n + 1)$ type of gamete, represented as $44\text{AA} + \text{XXY}$, resulting in a developing male individual with feminine characteristics.