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CHROMOSOMAL
ABERRATIONS
disruptions in the
normal chromosomal
content of a cell and
are a major cause of
genetic conditions in
humans
Cri du chat
Deletion of part of the short arm of
chromosome 5. "Cri du chat" means
"cry of the cat" in French; the
condition was so-named because
affected babies make high-pitched
cries that sound like those of a cat.
Affected individuals have wide-set
eyes, a small head and jaw,
moderate to severe mental health
issues, and are very short.
DOWN SYNDROME
Extra copy of chromosome
21 (trisomy 21).
Characteristics include
decreased muscle tone,
stockier build, asymmetrical
skull, slanting eyes and mild
to moderate developmental
disability
Edward’s syndrome
extra presence of trisomy-18, the
second-most-common trisomy.
Symptoms include motor
retardation, developmental
disability and numerous
congenital anomalies causing
serious health problems. They
have characteristic clenched hands
and overlapping fingers.
Jacobsen syndrome
terminal 11q deletion
disorder. Those affected
have normal intelligence
or mild developmental
disability, with poor
expressive language skills.
Klinefelter’s syndrome
usually sterile, and tend to
be taller and have longer
arms and legs than their
peers. Boys with the
syndrome are often shy and
quiet, and have a higher
incidence of speech
delay and dyslexia.
Patau syndrome
Triple x syndrome
XXX girls tend to be tall
and thin and have a
higher incidence of
dyslexia
XYY SYNDROME
Females with Turner
syndrome often have a short
stature, low hairline,
abnormal eye features and
bone development and a
"caved-in" appearance to
the chest
Chromosomal aberrations

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Chromosomal aberrations

  • 2. disruptions in the normal chromosomal content of a cell and are a major cause of genetic conditions in humans
  • 4. Deletion of part of the short arm of chromosome 5. "Cri du chat" means "cry of the cat" in French; the condition was so-named because affected babies make high-pitched cries that sound like those of a cat. Affected individuals have wide-set eyes, a small head and jaw, moderate to severe mental health issues, and are very short.
  • 5.
  • 7.
  • 8. Extra copy of chromosome 21 (trisomy 21). Characteristics include decreased muscle tone, stockier build, asymmetrical skull, slanting eyes and mild to moderate developmental disability
  • 9.
  • 11. extra presence of trisomy-18, the second-most-common trisomy. Symptoms include motor retardation, developmental disability and numerous congenital anomalies causing serious health problems. They have characteristic clenched hands and overlapping fingers.
  • 12.
  • 14. terminal 11q deletion disorder. Those affected have normal intelligence or mild developmental disability, with poor expressive language skills.
  • 16. usually sterile, and tend to be taller and have longer arms and legs than their peers. Boys with the syndrome are often shy and quiet, and have a higher incidence of speech delay and dyslexia.
  • 18.
  • 19.
  • 21. XXX girls tend to be tall and thin and have a higher incidence of dyslexia
  • 22.
  • 24.
  • 25.
  • 26. Females with Turner syndrome often have a short stature, low hairline, abnormal eye features and bone development and a "caved-in" appearance to the chest