Cri du chat

(Cat Cry Syndrome)

Cause:
Deletion of part of the short arm
of chromosome 5 (the p arm)

Characterics:
-affected babies make high
pitched cries that sound like cat
- have wide-set eyes, a small head
and jaw
- moderately to severely mentally
retarded
-very short and low weight
 Down Syndrome (trisomy
21)
Cause:
- Extra copy of chromosome 21

Characteristics:
- Decreased muscle tone, stockier
build, and asymmetrical skull
- flattened nose and face
- upward slanting eyes
- mild to moderate mental
retardation
- short fifth fingers that move
inward and first and second toes
are widely separated
 Edwards Syndrome
Cause:
- a trisomy of chromosome 18 or
third copy of all part of
chromosome 18
Characteristics:
- mental and motor retardation
- numerous congenital anomalies
causing serious health problems
- 99% die in infancy (heart defects)
- Hand appearance with clenched
hands and overlapping fingers
 Jacobsen syndrome
Terminal deletion 11q disorder
(very rare disorder)
Cause:
- Loss of genetic material at the
terminal part of long arm of
chromosome 11

Characteristics:
-have normal intelligence or
mental retardation
- poor or excessive language skills
- have a bleeding disorder called
Paris-Trousseau syndrome
 Klinefelter’s
syndrome (XXY)
Cause:
-two or more X chromosomes in
males
Characteristics:
-sterile or infertility and small
testicles
-have longer arms and legs
-taller than their peers
-shy and quiet
-higher incidence of speech delay
 Turner’s syndrome
(X)
Cause:
-one of X chromosomes are
missing or abnormal
Characteristics:
- Female sexual characteristics are
present but underdeveloped
- Short stature
- Low hairline
- Abnormal eye features and bone
development
- “Caved-in” appearance to the
chest