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Genetics
CAS 2-C
Jurial, Sherlyn P.
ABNORMAL HUMAN KARYOTYPE 2
JACOB’S SYMPTOMS
Jacob’s Syndrome, also known as XYY Syndrome, is a genetic
condition that occurs when a male has an extra copy of the Y
chromosome in each of their cells (XYY). Sometimes, this
mutation is only present in some cells. Males with XYY
syndrome have 47 chromosomes because of the extra Y
chromosome.
Some patients may show no symptoms, while others may develop mild symptoms. Below given
are some of the common signs and symptoms of XYY syndrome:
Underweight
Poor muscle tone
Delay in reaching all the milestone
Delayed in development of speech and language skills
Widely spaced eyes
Learning disability
Lower IQ than normal
Severe acne
Behavioural problems like high temper, hyperactive etc.
Involuntary muscle movement
Taller than average height
ABNORMAL HUMAN KARYOTYPE 3
TURNER’S SYNDROME
Turner Syndrome is a genetic disorder affecting some
females. It might cause problems with hearing, vision
and fertility. It does not usually affect intellectual ability.
Treatment with hormones can help manage some of the
problems.
In turner syndrome, cells are missing all part of an X
chromosome. The condition only occurs in females. Most
commonly , a female with turner syndrome has only 1 X
chromosome. Others may have 2 X chromosomes, but
one of them is incomplete. Sometimes, a female has
some cells with 2 X chromosomes, but other cells have only 1.
People with turner syndrome are often short in height. They sometimes have infertility. This is
due to their ovaries not developing properly.
Females with turner syndrome might also have some or all of the following health issues: