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Genetics
Chapter 8 concepts of genetics 10th ed
25
Biology
Undergraduate 4
04/22/2012

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Term
Aneuploidy
Definition
variations in chromosome number; occurs when an organism gains or loses one or more chromosomes and has other than an exact multiple of the haploid set
Term
Euploidy
Definition
complete haploid sets of chromosomes are present
Term
Polyploidy
Definition
occurs when more than two sets of chromosomes are present
Term
nondisjunction
Definition
nondisjunction-chromosomes or chromatids fail to disjoin and move to opposite poles during meiosis I or II
Term
monosomy
Definition
The loss of one chromosome to produce a 2n – 1 complement
Term
Trisomy
Definition
(2n + 1 chromosomes) for the sex chromosomes has a less dramatic phenotype than trisomies for autosomes, which are often lethal
Term
Down Syndrome
Definition
Down syndrome is usually a result of nondisjunction of the maternal chromosome 21 during meiosis.

It shows an increased
incidence with
increasing maternal
age

Genetic counseling is
recommended for women
who become pregnant
late in their reproductive
years.
Term
familial Down syndrome
Definition
runs in families,these instances involve a translocation of chromosome 21
Term
Patau syndrome
Definition
trisomy 13
Term
Edwards syndrome
Definition
trisomy 18
Term
deletion
Definition
When a chromosome breaks in one or more places and a portion of it is lost, the missing piece is referred to as a deletion
Term
The deletion can occur...
Definition
near one end (terminal deletion)
or from the interior of the chromosome (intercalary deletion)
Term
Cri-du-chat results from
Definition
a segmental deletion of a small terminal portion of the short arm of chromosome 5
Term
A Duplication
Definition
Is a Repeated Segment of the Genetic Material

arise as the result of unequal crossing over during meiosis or through a replication error prior to meiosis
Term
Inversions...
Definition
Rearrange the Linear Gene Sequence

involves a rearrangement of the linear gene sequence rather than the loss of genetic information.

In an inversion, a segment of a chromosome is turned around 180° within a chromosome.

An inversion requires two breaks in the chromosome and subsequent reinsertion of the inverted segment.
-An inversion may arise from chromosomal looping
Term
A paracentric inversion
Definition
does not change the relative lengths of the two arms of a chromosome.
Term
A pericentric inversion
Definition
which includes the centromere, does change the relative lengths of the two arms of a chromosome
Term
Synapsis of inverted chromosomes requires
Definition
an inversion loop
Term
What happens when crossover occurs
A single crossover within an inversion loop for paracentric inversion heterozygotes
Definition
one recombinant chromatid is dicentric (two centromeres)
one is acentric (lacking a centromere)
one NCO with normal sequence
one NCO with inverted sequence
Term
What happens when crossover occurs
A single crossover within an inversion loop for pericentric inversion heterozygotes
Definition
Two SCO gametes with duplication and deletion
One NCO gamete with a normal sequence
One NCO gamete with an inverted sequence
Term
Translocation
Definition
is a movement of a chromosomal segment to a new location in the genome
Term
reciprocal translocation
Definition
“even swap” between 2 nonhomologous chromosomes (each chromosome loses some of its own genes + gains those from the nonhomologous one).
Term
nonreciprocal translocation
Definition
genes from one chromosome break off and attach to a nonhomologous chromosome (one chromosome loses a section of genes and the other chromosome gains that section of genes).
Term
A reciprocal translocation
Definition
involves the exchange of segments between two nonhomologous chromosomes
Term
A Robertsonian translocation
Definition
centric fusion involves breaks at the extreme ends of the short arms of two nonhomologous acrocentric chromosomes
Special type of nonreciprocal translocation
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