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27 Cards in this Set

  • Front
  • Back

Recessive Disorder

A genetic disorder that will not exist in the presence of a functional allele

Autosomal Recessive Disorder

A recessive dysfunction related to an autosome

Carrier

A person who does not suffer from a recessive genetic debilitation but who carries an allele for it that can be passed along to offspring

Dominant Disorders

Genetic conditions in which a single faulty allele can cause damage, even when a second, functional allele exists.

Autosomal dominant disorder

A dominant genetic disorder caused by a faulty allele that lies on an autosomal chromosome

Recessive genetic disorder is one that will not exist in the presence of a __1__, while a dominant disorder is one in which a __2__ can cause trouble, even in the presence of a __3__.

1. Functional allele


2. Faulty allele


3. Functional allele

True or false: a woman has only one X chromosome containing dysfunctional alleles for red-green color vision is not color-blind.

True: her second X chromosome contains functional alleles, which are enough to keep her from being color-blind.

To inherit an autosomal recessive disorder, both parents of an offspring must be at least __1__ for the condition, meaning each parent must have at least __2__.

1. Heterozygous


2. One faulty allele

Pedigree

Familial history intended to track genetic conditions

Polyploidy

A condition in which one or more entire sets of chromosomes have been added to the Genome of a diploid organism

Aneuploidy

A condition in which an organism has either more or fewer chromosomes than normally exists and its species full set

Nondisjunction

A failure of homologous chromosomes are sister chromatids to separate during cell division.

Medical pedigree is used to identify __1__ disorders that are passed along in __2__.

1. Genetic


2. Families

Aneuploidy exists when an organism has more or fewer __1__ than normally exists and its species __2__.

1. Chromosomes


2. Full set

The most common cause of meiotic aneuploidy is a failure of homologous chromosomes or sister chromatids to __1__, and which leads to one cell having __2__, while the other daughter cell has __3__.

1. Separate


2. One chromosome too many


3. One too few

Down syndrome

A condition in which a person has three copies of chromosome 21 rather than the standard two

Chromosomal deletion

When a chromosome fragment breaks off and then does not rejoin any chromosome

Inversion

A chromosomal abnormality that comes about when a chromosomal fragment that rejoins a chromosome does so with an inverted orientation

Translocation

Chromosomal abnormality that occurs when two chromosomes that are not homologous exchange pieces, leaving both with improper Gene sequences

Which of the following can be a result of aneuploidy (a) Miscarriage, (b) Down syndrome, (c) Turner syndrome?

Miscarriage, Down Syndrome, AND Turner Syndrome

The aneuploidy that exists in cancerous cells develop during the process of __1__, rather than __2__, and this is not seen in every cell in the body, but only in a __3__ of cells.

1. Mitosis


2. Meiosis


3. Line

Chromosomal aberrations include deletions, in which a person is missing a __1__ of a __2__.

1. Segment


2. Chromosome

Examples of x-linked recessive disorders

1. Hemophilia


2. Duchenne muscular dystrophy


3. Red-green color blindness

Examples of autosomal recessive disorder

1. Albinism


2. Sickle cell anemia


3. Cystic fibrosis.


4. Tay-Saches disease


5. Werner syndrome


6. Phenylketonuria

Examples of autosomal dominant

1. Huntington's disease


2. Marfan syndrome


3. Polydactyly

Examples of aberrations in chromosome number

1. Down syndrome


2. Turner syndrome


3. Klinefelter syndrome

Operations in chromosome structure

1. Cri-du-chat syndrome


2. Fragile X-syndrome