Abnormalities and Human Karyotyping
Men with this condition are usually sterile and tend
Abnormalities
(a)“Cri du chat'
is caused by the deletion of part of the short arm of
chromosome 5. “Cri du chat” is French, and the
conditions so named because affected babies make
high-pitched cries that sound like a cat. Affected
individuals have wide-set eyes, a small head and
jaw, are moderately to severely mentally retarded,
and very short.
(b) Down's syndrome
Usually caused by an extra copy of chromosome
21(trisomy21). Characteristics include decreased
muscle tone, stockier build, asymmetrical skull,
slanting eyes and mild to moderate mental
retardation.
(c)Edwards syndrome
which is the second most common trisomy after
Down's syndrome, is a trisomy of chromosome
18.Symptoms include mental and motor retardation
and numerous congenital anomalies causing serious
health problems. About99% die in infancy.
However,those who live past their
firstbirthday,usuallyarequitehealthy thereafter. They
have a characteristic hand appearance with
clenched hands and overlapping fingers.
(d)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 havea
bleeding disorder called Paris-Trousseau syndrome.
(e) Klinefelter's syndrome(XXY)
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.
(f) 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
Human Karyotyping
Occasionally, chromosomal material is lost or
rearranged during the formation of gametes or
during cell division of the early embryo. Such
changes, primarily the result of nondisjunction or
translocation, are so severe that the pregnancy ends
in miscarriage - meaning loss of an embryo or fetus
before the 20th week of pregnancy or fertilization
does not occur at all. It is estimated that one in 156
live births has some kind of chromosomal
abnormality.
Some of the abnormalities associated with
chromosome structure and number can be detected
by a test called a karyotype. A karyotype is an
image of the full set of chromosomes of an
individual that displays the normal number, size,
and shape. Karyotypes may reveal the gender of a
fetus or test for certain defects through examination
of cells from uterine fluid - a procedure called
amniocentesis.