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Chromosomal

Abnormalities
Presented by: April Joy D. Paray
What is a Chromosome?

Chromosomes are tiny structures inside cells made


from DNA and protein.

 It comes from the Greek words:


Chroma = color
Soma= body
 “the body”
What is a Chromosome?

Chromosomes act as factors which


distinguished one species from another.

Chromosomes are found in the nucleus of


every cell.
What do they look like?
Same or different?

Different forms of life have a different


number of chromosomes in each cell.
How many chromosomes does human have?

Humans have 23 different pairs of


chromosomes for a total of 46 chromosomes
in each cell.

-23 chromosomes from our mother


-23 chromosomes from our father.
How many chromosomes does human have?

22 pairs are called autosomes and the

23rd pair is called allosome or sex


chromosomes
Autosomes
Sex Chromosomes
Chromosomal Abnormalities

These disorders are caused by errors in the number or


structure of chromosomes, which usually result from
an error that occurred when an egg or sperm cell
was developing.

About 1 in 150 babies is born with a chromosomal


abnormality (American College of Obstetricians and
Gynecologists, 2001, 2005; Carey, 2003).
Chromosomal Abnormalities

Children with chromosome abnormalities are either


born with:
 an irregular number of chromosomes (more or
fewer)
 with one or more chromosomes that have irregular
structures (deletions from or duplications to parts of
an individual chromosome, or with a part of one
chromosome moved to another location).
Chromosomal Abnormalities

 It is still unknown why these errors occur.

 This
errors can cause a variety of mental
and/or physical birth defects, birth defects
ranging from mild to severe.
Down Syndrome
Characteristics
-have one extra chromosome.

Physical characteristics include:


-protruding tongue, thick lips, flat
nose, short neck, wide gaps
between toes, short fingers,
specific health problems,
and risks for heart problems and
hearing loss. Mental retardation
can range from mild to severe.
Klinefelter Syndrome
Characteristics

 Only boys have Klinefelter syndrome.


 They have one Y chromosome and two X
chromosomes. Diagnosis may not occur until
adolescence, when testes fail to enlarge.
 Affected boys tend to have long legs, to
 grow modest breast tissue, a/1d to remain sterile.
 They tend to show lower than average verbal ability
 and some speech and language delays.
Klinefelter
Syndrome
Turner Syndrome
Characteristics
 Only girls have Turner syndrome.
 They have one X chromosome and are missing the
second sex chromosome.
 They have broad chests, webbed necks, short stature,
and specific health problems.
 They do not show normal sexual development.
 They may show normal verbal ability but lower than
average ability in processing visual and spatial
information.
Turner
Syndrome
Prader-Willi Syndrome
Characteristics
 A deletion from a gene segment on chromosome 15 is
inherited from the father
 Children with this syndrome tend to become obese and show
mental retardation
 small hands and feet and are short in stature
 may develop maladaptive behaviors such as throwing
frequent temper tantrums and picking at their own skin.
 Beginning at ages 1-6, children may eat excessively, hoard
food, and eat unappealing substances.
Prader-Willi
Syndrome
Angelman Syndrome
Characteristics
 A deletion from a gene segment on chromosome 15 is
inherited from the mother.
 show mental retardation, a small head, seizures, and
jerky movements.
 have unusual, recurrent bouts of laughter not
associated with happiness.
Angelman
Syndrome