Edra,CZheimer L.

Section 3-CMTC
Cytogenetics Professor Gil Cauyan
Cri-Du-Chat Syndrome

The name of this syndrome is

French for "cry of the cat," referring to the
distinctive cry of children with this
disorder.
The cry is caused by abnormal
larynx development.
It usually becomes less noticeable
as the baby gets older, making it difficult
for doctors to diagnose cri-du-chat after
age two.
Cri-du-chat is caused by a deletion
(the length of which may vary) on the
short arm of chromosome 5.
It is possible for a child to inherit a
broken chromosome from a parent who
also has the disorder.
Down Syndrome
People with Down syndrome have
distinct facial features: a flat face, a
small broad nose, abnormally shaped
ears, a large tongue, and upward-
slanting eyes with small folds of skin in the
corners.

Children with Down syndrome

usually develop more slowly than their
peers and have trouble learning to walk,
talk, and take care of themselves.

Because of these medical

problems, most people with Down
syndrome have a decreased life
expectancy. About half live to be 50
years of age.
Edra,CZheimer L. Section 3-CMTC
Cytogenetics Professor Gil Cauyan
Klinefelters Syndrome

47, XXY (or XXY) is a genetic

condition caused when someone
has two X chromosomes and one Y
chromosome.

Because people with an XXY

chromosome arrangement have a
Y chromosome, they are
considered genetic males.

XXY is one of the most

common genetic conditions,
affecting about 1 in 660 genetic
males

Turner Syndrome

Turner syndrome is
caused by a missing or incomplete X
chromosome.

Normally, a girl inherits

one X chromosome from her mother
and one X chromosome from her
father. But girls who have Turner
syndrome are missing one of their X
chromosomes.

Turner syndrome is
typically caused by what is called
nondisjunction.