BIOLOGY NONJUNCTION: DEFINITION AND RESULTS

KARYOTYPE  Form of chromosomal mutation

during meiosis when homologous
KARYOTYPE: - picture of chromosomes taken
chromosomes separate.
during metaphase (mitosis) when
 Results in abnormal number of
chromosomes are fully condensed.
chromosomes in gametes, which can
 Chromosomes are arranged large to small possibly lead to a disorder in the
by homologous pairs offspring.
- Sex chromosomes shown last
 Normal human karyotypes show 46
chromosomes NONDISJUNCTION
- 44 autosomes (22 pairs of
 Nondisjunction (“not coming apart”)
homologous chromosomes)
is the failure of chromosomes pairs to
separate properly during meiosis
stage 1 or stage 2.
 This could arise from a failure of
homologous chromosomes to
separate in meiosis 1, or the failure of

-
- 2 sex chromosomes

KARYOTYPE: How it is useful

 In order to study differences in size, sister chromatids to separate during

shape, and chromosome number (too meiosis II or mitosis.
few or too many)
 Determines the sex of the child
 Usually done for humans when a NONDISJUNCTION
known chromosomal disorder runs in
 The result of its error is a cell with an
family (i.e. Down Syndrome)
imbalance of chromosomes. Such a
 Can be done for any organism
cell is said to be aneuploid.
DISJUNCTION
ANEUPLOIDY
 The normal separation of
 Aneuploidy is an abnormal number of
chromosomes in meiosis I or sister
chromosomes, and is a type of
chromatids in meiosis II is termed
chromosome abnormality. An extra or
disjunction.
missing chromosome is a common
 When the separation is not normal, it
cuase of genetic disorders (birth
is called nonjunction.
defects).
  Aneuploidy occurs during cell division  The chromosomes from the cells are
when the chromosomes do not magnified under a microscope and a
seprate properly between the two picture is taken.
cells (nondisjunction). Chromosome  The chromosomes are cut out and
abnnormalities occur in 1 of 160 live arranged in homologous pairs in
births. decreasing size order.
 Most cases of aneuploidy result in  This is called a karyotype
termination of the developing fetus,
but there can be cases of live birth;
the most common extra
chromosomes among live births are
21, 18, and 13.

NONDISJUNCTION

 Nondisjuction can occur in the meiosis

I or meiosis II, phases of cellular
reproduction, or during mitosis.
 This results in the production of
gametes which have either too many
or too few of a particular
chromosome, and is a common
mechanism for monosomy or trisomy.

This is a cause of several medical conditions in

humans, including but not limited to:

 PATAU SYNDROME – trisomy of

chromosome 13
 EDWARD SYNDROME – trisomy of
chromosome 13
 DOWN SYNDROME – trisomy of
chromosome 21
 KLINEFELTER SDYNDROME – extra X
chromosomes in males. i.e. XXY, XXXY,
XXXXY, etc.

PRENATAL DIAGNOSIS

 A small sample of the amniotic fluid

surrounding the baby is removed
using a syringe.
 The fluid contains skin cells from the
baby
 The skin cells are grown in the lab
 REMEMBER: A woman is born with all of her
egg cells, but meiosis is not yet complete.

- Egg development stops in

prophase I until the follicle
matures prior to ovulation)

TURNER SYNDROME

DOWN SYNDROME (TRISOMY 21)

 Extra chromosome 21 in every cell of

the body.
 Karyotype = 47, XX+21 or 47, XY+21

 As a woman gets older, her chances of

having a baby with a chromosome
abnormality increases.
 NONDISJUNCTION: EXAMPLES OF
DISORDERS

 DOWN SYNDROME- (autosomes) –

three copies of chromosome 21
- Karyotype shows 47
chromosomes (trissomy 21)
- Raesults in various degrees of
mental disabilities, causes
decrease immunities to
diseases/organ defects,
distinguished facial features.
 EDWARDS’S SYNDROME –
(autosome) - three copies of
chromosome 18
- Kryotype shows 47 chromosomes
(Trisomy 18)
- Results in failure of all organ
systems, death after a few months
 TURNER’S SYNDROME (sex
chromosomes) – only one X
chromosome is inherited
- Karyotype 45, X
- Results in sterile female, short in
stature, heart and kidney defects
 “SUPERFEMALE”- (sex chromosomes)
– extra X chromosome is inherited
- Karyotype 47, XXX (Trisomy X)
- Result in healthy, fertile female
 KLINEFELTER’S SYNDROME – (sex
chromosome) – extra X
chromosome(S) is/are inherited
- Karyotype 47, XXY (“or even 48,
XXXY; 49, XXXXY)
- Usually results in sterile male
 “SUPERMALE” – (Sex chromosome) –
extra Y chromosome is inherited
- Karyotype 47, XYY
- Usually results in sterile, more
violent, decreased intelligence,
taller male

NONDISJUNCTION

 Surprisingly, in plants, extra

chromosomes can actually be helpful
 Sometimes it makes larger flowers
and fruits!