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Chromosomal Abnormalities
Nusrat Zerin
Chromosomal Abnormalities
Children with chromosome abnormalities are
born with an irregular number of
chromosomes (more than or fewer than 46) or
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).
1. Down Syndrome
Children with Down syndrome have one extra
chromosome
Physical characteristics
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.
Children often have good visual discrimination
skills and may be better at understanding verbal
language than producing it.
2. Klinefelter Syndrome
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.
3.Turner Syndrome
Only girls have Turner syndrome; they have
one X chromosome and are missing the
second sex chromosome.
Affected girls have broad chests, webbed
necks, short stature, and specific health
problems. They do not show normal sexual
development. They may show normal verbal
ability.

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Chromosomal Abnormalities in Children

  • 2. Chromosomal Abnormalities Children with chromosome abnormalities are born with an irregular number of chromosomes (more than or fewer than 46) or 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).
  • 3. 1. Down Syndrome Children with Down syndrome have one extra chromosome Physical characteristics 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. Children often have good visual discrimination skills and may be better at understanding verbal language than producing it.
  • 4. 2. Klinefelter Syndrome 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.
  • 5. 3.Turner Syndrome Only girls have Turner syndrome; they have one X chromosome and are missing the second sex chromosome. Affected girls have broad chests, webbed necks, short stature, and specific health problems. They do not show normal sexual development. They may show normal verbal ability.