Saturday, July 14, 2007

Common chromosal disorders

1. Trisomy 21 (Down syndrome)

Characteristics:

  • Oblique eye fissures
  • Muscle hypotonia (poor muscle tone)
  • Flat nasal bridge
  • Single palmar fold (also known as a simian crease)
  • Protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils)
  • Short neck
  • White spots on the iris known as Brushfield spots
  • Most individuals with Down syndrome have mental retardation

2. Trisomy 13 (Patau's syndrome)

Characteristics: Most cases of Patau's syndrome result from trisomy 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies.

  • Mental & motor retardation
  • Polydactyly (extra digits)
  • Low- set ears
  • Holoprosencephaly (failure of the forebrain to divide properly)
  • Heart defects
  • Structural eye defects
  • Cleft lip

3 comments:

lee said...

hi ms. ann i have a question,
whats the difference between a living will and an advance directive?
tnx

Ann Adams said...

Lee,

"Advance directives" are legal written or oral statements made by a client who is mentally competent about treatment preferences. A "living will" is an example of an advance directive. Another advance directive would be "durable power of attorney".

I hope this helps.

Ann

lee said...

thanx ms. ann, that helped a lot