CHROMOSOMAL
ANOMALIES
FUZAIL M. MAJOO
occur when there is an error in cell division after meiosis or mitosis
CHROMOSOMAL AND GENETIC ABNORMALITIES
• A chromosomal disorder occurs when there is a change
in the number or structure of the chromosomes.
• This change in the amount, or arrangement of, the
genetic information in the cells may result in problems in
growth, development and/or functioning of the body
systems
TYPES OF CHROMOSOME OR ANOMALIES
• There are many types of chromosome anomalies. They
can be organized into two basic groups:
• Numerical
• Structural
KARYOTYPE autosomal chromosomes 22 pairs
• Chromosomal makeup of
an organisim
1 pair sex chromosome
NUMERICAL DISORDERS
• Referred to as Aneuploidy abnormal no of chromosome; missing or having extra
• Monosomy missing
• Polysomy extra more than two chromosomes in the pair
NUMERICAL ABERRATIONS
• Significant Proportion Of Chromosomal Changes
• Two Types
a) Constitutive in every cell of the body in meiosis
b) Mosaic in mitosis in certain cells
MONOSOMY
• Turner Syndrome
• Missing Chromosome
• Mosiac
only in females, underdeveloped ovaries, short stature, bulky neck and broad chest
scoliosis (shifted spine), secondary sex characters are absent, non evident mental retardation
folds in skin, low hair line, cardiovascular constriction of aorta
Turner Syndrome
DOWN SYNDROME more common
• 1/700
• ~66% spontaneous
abortion
• Extra Chromosome from
mother usually
• Risk correlation with
maternal age
DOWN SYNDROME
upward slant to the eye
small ears folding over at the top
small flattened nose and mouth
short neck
large tongue
small hands short fingers
mild to moderate majority or severe mental retardation
TRISOMY 18
• Edwards Syndrome 47 XY or XX + 18
• 1/5000
• Females more common
• Age factor of mother
TRISOMY 18
• Birth weight affected
• Abnormal size & shape of head
• Ear shape low set
• Heart & Organ defects
small mouth and jaw
abnormal shaped head
overlapping fingers
clenched fist
rocker bottom feet
STRUCTURAL ABNORMALITIES
• Structural aberrations; changes in chromosome structure
• Results are wide from, structural or functional loss to death
• Due to events during meiosis unequal crossing over
chromosomal breakage
CHROMOSOME ORGANIZATION
DELETIONS
WOLF-HIRSCHORN SYNDROME
partial deletion of chromosome number 4 1/50000
flat nasal bridge
high forehead
wide eyes
short distance bet nose and upper
poorly developed ears
Jackobson's syndrome
DUPLICATIONS
• Duplications are
unbalanced
rearrangements that
result in partial
trisomy.
• Duplications are
believed to result
primarily from
Unequal crossing
over especially in
regions of
CHARCOT–MARIE–TOOTH DISEASE CMT
lose touch sensation PNS
lose muscle tissue
arch in foot
Translocations
• Exchange of chromosome segments(s)
• Two types :
• Reciprocal translocations
• Robertsonian translocations
Translocations
more likely in smal
acrocentric chromosome
short arm breaks off
the long arms of 2 different chromosomes come together
INVERSIONS
• Breaks in the same
chromosome
• Two types
a) Pericentric
inversion
b) Paracentric
inversion
INSERTIONS
• The addition of one or more
nucleotide base pairs into a DNA
sequence
• Huntington's disease
• Fragile X syndrome
HUNTINGTONS & FRAGILE X SYNDROME
RINGS
• Genetic material rearrangement to circle
• Ring Chromosome 14 Syndrome seizures
intellectual disability
in infancy or childhood
telomeres deleted
duplication of one arm and
deletion of the other arm
ISOCHROMOSOME
• Unbalanced Structural Abnormality In Which The Arms Of
The Chromosome Are Mirror Images Of Each Other.
• X sex chromosome most common more likely in small
• 13, 14,15,21,22 chromosomes more tolerable
INHERITANCE
• Mosaicism
• One Or Both Parents
• Mutation
THANK YOU
