Chromosome Mutations and Disorders

Flashcards focused on aneuploidy, chromosomal rearrangements, and related disorders.

Aneuploidy is caused by __ during meiosis.

non-disjunction

The normal diploid human cell contains __ chromosomes.

46

Chromosome abnormalities can occur due to chromosomal __.

rearrangements

The four types of chromosomal rearrangements are deletion, duplication, __, and translocation.

inversion

Klinefelter syndrome is characterized by an __ karyotype.

XXY

Aneuploidy generally results in abnormality or miscarriage due to the difference in chromosome number from __ (wt).

wild type

Chromosomal rearrangements may affect genetic material by causing deletion, duplication, __, or translocation.

inversion

Trisomy 21 is also known as __ syndrome.

Down

A portion of one chromosome exchanged with a portion from another chromosome is known as __.

translocation

Robertsonian translocation involves __ chromosomes, where the short arm is lost.

acrocentric

Non-disjunction can occur during meiosis I or __.

meiosis II

Monosomy indicates there is __ copy of a chromosome instead of two.

one