Chromosomal Abnormalities
By : Escel P. Velasquez, RN,MAN
What are chromosomes?
▪ Humans have 23
pairs of
chromosomes, with
one chromosome from
each parent. The
chromosomes are
coiled up DNA.
This is
Under normal huma a norm
n chro al kar
is a pi moso yotype
conditions all of the cture
o f
m es. A
k a
of
up to ch ryo
look a romosomes type
chromosomes are t and
comp lined
are.
inherited intact.
Chromosomal abnormalities
▪ Incorrect number of chromosomes
◆ nondisjunction
▪ chromosomes don’t separate properly
during meiosis
◆ breakage of chromosomes
▪ deletion
▪ duplication
▪ inversion
▪ translocation
Chromosomal Disorders
▪ Chromosomal deletion: when cells go through
meiosis, portions of the chromosome are lost.
▪ Chromosomal inversion: when cells go through
meiosis, parts of the chromosome are flipped.
▪ Chromosomal translocation: when cells go through
meiosis, parts of the chromosomes stick together
and switch.
▪ Chromosomal non-disjunction: when cells go through
meiosis the chromosomes don’t separate correctly
and either too many or not enough are passed on.
Single Chromosome Disorders
1. Deletion
• Genetic material
is missing
2. Duplication
• Genetic material
is present twice
3. Inversion
• Genetic material
is “flipped”
Two Chromosome Disorders
(Both types are called “translocation”)
Insertion
• Genetic material is added from another
chromosome
Translocation
• Material is swapped with another
chromosome
Nondisjunction
▪ Problems with meiotic spindle (doesn’t attach or
pull correctly) cause errors in daughter cells
◆ chromosomes do not separate properly during
Meiosis 1
◆ sister chromatids fail to separate during Meiosis 2
◆ too many or too few chromosomes
2n nn
-1
nn
+1
Alteration of chromosome number
Nondisjunction
▪ Baby has wrong chromosome number
◆ trisomy
▪ cells have 3 copies of a chromosome
◆ monosomy
▪ cells have only 1 copy of a chromosome
monosomy trisomy
2n-1 2n+1
Human chromosome disorders
▪ High frequency in humans
◆ most embryos are spontaneously aborted
◆ alterations are too disastrous
◆ developmental problems result from
biochemical imbalance
▪ Certain conditions are tolerated
◆ upsets the balance less, so child survives
◆ characteristic set of symptoms is called a
syndrome
Down syndrome
▪ Trisomy 21
◆ 3 copies of chromosome 21
◆ 1 in 700 children born in U.S.
▪ Chromosome 21 is the
smallest human chromosome
◆ but still severe effects
▪ Frequency of Down
syndrome correlates
with the age of the mother
Trisomy 21
Sex chromosomes in different numbers
▪ Human development
more tolerant of wrong
numbers in sex
chromosome
▪ But produces a variety of
distinct conditions in
◆ XXY = Klinefelter’s syndrome
humans
male
◆
XXX = Trisomy X female
◆
XYY = Jacob’s syndrome male
◆ XO = Turner syndrome
female
