During fertilizations, the gametes meet to form a fertilized egg containing the normal number of 46 chromosomes.
An error in
meiosis (called a non-disjunction event) causes the gamete to have an extra copy of a chromosome, and the resulting fertilized egg has a total of 47 chromosomes.
What happens when a gamete has an extra chromosome?
If a gamete with two copies of the chromosome combines with a normal gamete during fertilization, the result is
trisomy
; if a gamete with no copies of the chromosomes combines with a normal gamete during fertilization, the result is monosomy.
What is it called when a gamete has an extra chromosome?
A gain or loss in the number of chromosomes from the normal 46 is called aneuploidy. A common form of aneuploidy is
trisomy
, or the presence of an extra chromosome in cells. “Tri-” is Greek for “three”; people with trisomy have three copies of a particular chromosome in cells instead of the normal two copies.
What happens if nondisjunction occurs?
Nondisjunction of a single chromosome will
produce germ cells that have either two (disomy) or zero (nullisomy) copies of the specific chromosome
. If a germ cell with an extra chromosome is combined with a chromosomally normal germ cell, the product will be trisomic (i.e., having 47 chromosomes).
How does nondisjunction occur?
Nondisjunction occurs
when homologous chromosomes or sister chromatids fail to separate during meiosis
, resulting in an abnormal chromosome number. Nondisjunction may occur during meiosis I or meiosis II. … Nondisjunction always results in four different kinds of gametes.
Why is an extra chromosome bad?
For example, an extra copy of chromosome 21 causes
Down syndrome
(trisomy 21). Chromosomal abnormalities can also cause miscarriage, disease, or problems in growth or development. The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome.
Can you have an extra chromosome and be normal?
Down syndrome
is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes.
What diseases are caused by an extra chromosome?
A trisomy
is a chromosomal condition characterised by an additional chromosome. A person with a trisomy has 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
What does a missing chromosome mean?
Monosomy
means that a person is missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45 chromosomes. This means a girl with TS has only one X chromosome in her 23
rd
pair. Sometimes an error occurs when an egg or sperm cell is forming. This causes it to have a missing sex chromosome.
Why are chromosomal disorders often fatal?
Because they involve numerous genes, with disturbance in the normal genomic balance, most disorders affecting chromosome number are
embryonic lethal
, particularly if the defect is loss of a chromosome. Disorders that are not lethal usually result in sterility, because they prevent meiosis from proceeding normally.
Is Down syndrome caused by nondisjunction?
Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21. The type of error is called
nondisjunction
(pronounced non-dis-JUHNGK-shuhn).
Can you have an XXY chromosome?
Klinefelter syndrome
is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome. Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.
Where does nondisjunction occur in Turner syndrome?
That means that the woman with Turner syndrome had to have obtained her sole X from her mother. She did not obtain a sex chromosome from her father, which indicates that nondisjunction occurred in him. The nondisjunction could have occurred at
either M
I
or M
II
.
Why nondisjunction is more common in females?
We speculated that for young women then, the most frequent risk factor for MI nondisjunction is
the presence of a telomeric exchange
. As a woman ages, her meiotic machinery is exposed to an accumulation of age-related insults, becoming less efficient/more error-prone.
Why is nondisjunction more common in older females?
One explanation for why meiotic segregation errors are more prevalent in older women is that
cohesion between sister chromatids deteriorates with age and renders recombinant chromosomes susceptible to missegregation
.
Are humans polyploidy?
Humans. … Polyploidy occurs in humans in the
form of triploidy
, with 69 chromosomes (sometimes called 69, XXX), and tetraploidy with 92 chromosomes (sometimes called 92, XXXX). Triploidy, usually due to polyspermy, occurs in about 2–3% of all human pregnancies and ~15% of miscarriages.