INHERITED
DISORDERS
CAUSED BY
MUTATED GENES
CRI DU CHAT
• French term for Cat Cry Syndrome.
• caused by the deletion of part of the
short arm of chromosome 5.
CRI DU CHAT
(Cat Cry Syndrome)
Characteristics:
• affected babies
make
highpitched cries that
sound like a cat.
• wide-set eyes
• small head and
jaw
• moderately
to
severely mentally
retarded
• very short.
DOWN SYNDROME
(Trisomy 21)
• caused by an extra copy of
chromosome 21(trisomy 21).
DOWN SYNDROME
(Trisomy 21)
Characteristics:
• decreased
muscle tone
• stockier build
• asymmetrical
skull
• slanting eyes
• mild to
moderate
mental
retardation
EDWARDS SYNDROME
(Trisomy 18)
• caused by trisomy of chromosome 18.
EDWARDS SYNDROME
(Trisomy 18)
Characteristics:
• Mental
and
motor
retardation and
numerous
congenital
anomalies
causing serious
health
problems.
About 99% die
in infancy.
EDWARDS SYNDROME
(Trisomy 18)
JACOBSEN SYNDROME
(terminal 11q deletion disorder)
This is a very rare
disorder.
Those
affected have normal
intelligence or mild
mental
retardation,
with poor or excessive
language skills. Most
have
a
bleeding
disorder called ParisTrousseau syndrome.
KLINEFELTER’S SYNDROME
(XXY)
KLINEFELTER’S SYNDROME
(XXY)
Men
with
this
condition
are
usually sterile and
tend
to
have
longer arms and
legs and to be
taller than their
peers. They are
often
shy
and
quiet and have a
higher incidence
of speech delay.
TURNER’S SYNDROME
(X instead of XX or XY)
TURNER’S SYNDROME
(X instead of XX or XY)
Female
sexual
characteristics
are
present
but
underdeveloped.
They often have a
short stature, low
hairline,
abnormal
eye features and
bone development
and a “caved-in”
appearance to the
chest.