3.5 Human Genetic Disorders Flashcards
Polymorphisms
Genetic changes that occur in more than one percent of the population
Nondisjunction errors
Homologous chromosomes or sister chromatids fail to separate during meiosis
Aneuploid
Cell has atypical number of chromosomes
Trisomy
Cells having three sets of chromosomes.
monosomy
Cell having one set of chromosomes
Disomy
Cell having two sets of chromosomes
Trisomy 21
Down syndrome
De novo mutations
Occurring in the germ cell right after the formation of the zygote. Child can have a mutation with no history of the mutation or resulting disorder in their parents or ancestors.
Mosaicism
Type of mutation that occurs early in the embryo’s development and results in two forms of DNA existing in the cells of the body
Karyotype
An organized profile of an organism’s chromosomes
Portrays the number, relative size, shape, and appearance of the chromosomes
Karyogram
Image ofchromosomes arranged by size and other characteristics
Euploid
An organism with the appropriate number of chromosomes for the species
Turner syndrome
Person only has one copy of the X chromosome often. Often causes infertility due to lack of ovarian function, short stature, skeletal abnormalities, heart defects, and kidney problems
Klinefelter syndrome
Person having two copies of the X chromosome + one Y chromosome. Causes infertility, abnormal body proportions, tall stature, less facial hair, and small male reproductive organs
Barr body
Inactivated x chromosome
