Genetic Mutation
Syndrome/Disease Type of Mutation
Beta thalassemia
- a blood disorder that reduces the
production of hemoglobin
Cystic Fibrosis
- The most common genetic
abnormality causing cystic
fibrosis involves the deletion of just
three DNA bases (a codon) from the
CFTR gene.
Sickle cell anemia
- an inherited red blood cell disorder
in which there aren't enough healthy
red blood cells to carry oxygen
throughout your body.
Symptoms/Manifestations
Insertion They do not gain weight and grow at the
expected rate (failure to thrive) and may
develop yellowing of the skin and whites of
the eyes (jaundice).
Deletion sinus infections, poor growth, fatty
stool, clubbing of the fingers and toes,
and infertility in most males.
Substitution Anemia, pain, swelling of hands and feet,
frequent infections, delayed growth or
puberty, vision problems
Chromosomal Mutation
Syndrome/Disease
Opitz-Kaveggia syndrome
- is a rare cause of X-linked
intellectual disability and
associated anomalies in males due
to a mutation in the MED12 gene
located at chromosome Xq13.
Cri du chat syndrome
- rare genetic disorder caused by
missing pieces on a particular
chromosome.
Pallister-Killian mosaic syndrome
- usually caused by the presence of an
abnormal extra chromosome
12 called isochromosome 12p.
Down Syndrome
- babies with Down syndrome have
an extra copy of one of these
chromosomes, chromosome 21.
Klinefelter Syndrome
- is a genetic condition that results
when a boy is born with an extra
copy of the X chromosome.
Turner Syndrome
- a condition that affects only
females, results when one of the X
chromosomes (sex chromosomes)
is missing or partially missing.
Type of Symptoms/Manifestations
Mutation
Inversion dysmorphic features, including
relative macrocephaly, hypertelorism,
downslanted palpebral fissures, prominent
forehead with frontal hair upsweep, and broad
thumbs and halluces.
Deletion high-pitched cat-like cry, mental retardation,
delayed development, distinctive facial features,
small head size (microcephaly), widely-
spaced eyes (hypertelorism), low birth
weight and weak muscle tone (hypotonia) in
infancy.
Duplication severe intellectual disability, poor muscle tone,
"coarse" facial features, and a prominent
forehead. They tend to have a very thin upper lip,
with a thicker lower lip and a short nose.
Trinomy 21 flattened face, almond shape eyes that slant up,
short neck, small ears, a tongue that tends to
stick out, tiny white spots on the iris, small hands
and feet
Klinefelter Taller than average stature, longer legs, shorter
torso and broader hips, absent, delayed or
incomplete puberty, small firm testicles, small
penis, enlarged breast tissue
Turner Short stature and non-functioning ovaries which
causes infertility, some may also have extra skin
on the neck, puffiness or swelling of hands and
feet, skeletal abnormalities, heart defects, high
blood pressure, kidney problems