GENETIC DISEASES

What is Klinefelter Syndrome ?

Klinefelter syndrome is the condition where a male has an additional X chromosome in his cells. Under normal conditions, a male has XY chromosome pattern whereas for males with Klinefelter syndrome the pattern differs to XXY (44 + XXY).

This extra X chromosome leads to development of various abnormalities like :

·      small testes,

·      enlarged breasts,

·      infertility

·      long legs,

·      mental retardation

·      and reduced sperm production.

What is Turner syndrome?

Turner syndrome is a condition in which a female does not have the usual pair of two X chromosomes. (44 + XO)

Possible symptoms in young infants include:

·                     Swollen hands and feet

·                     Wide and webbed neck

A combination of the following symptoms may be seen in older females:

·                     Absent or incomplete development at puberty, including sparse pubic hair and

            small breasts

·                     Broad, flat chest shaped like a shield

·                     Drooping eyelids

·                     Dry eyes

·                     Infertility

·                     No periods (absent menstruation)

·                     Short height

What is Down’s syndrome?

Down's syndrome, also known as trisomy 21, is a chromosomal condition caused by the presence of three chromosome 21.

Common physical signs include:

• Flattened nose
• Upward slanting eyes
• Single crease in the palm of the hand
• Small ears
• Small mouth
• Wide, short hands with short fingers

Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.

Children may also have delayed mental and social development. Common problems may include:

• Impulsive behavior
• Poor judgment
• Short attention span
• Slow learning