Monday, March 3, 2014

Cat Eye syndrome, also called Schmid-fraccaro Syndrome is caused by either trisomy 22 or tetrasomic 2. 
Cat eye syndrome got it's name because of the way it changes the appearance of the colobomas in the eye, but  over half of the people who have trisomy 22 do not have this trait. Some characteristics of trisomy 22 are:
  • Anal atresia (abnormal obstruction of the anus)
  • Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes)
  • Downward-slanting Palpebral fissures (openings between the upper and lower eyelids)
  • Preauricular pits/tags (small depressions/growths of skin on the outer ears)
  • Cardiac defects (such as TAPVR)
  • Kidney problems (missing, extra, or underdeveloped kidneys)
  • Short stature
  • Scoliosis/Skeletal problems
  • Mental retardation – although most are borderline normal to mildly retarded, and a few even have normal intelligence, CES patients occasionally exhibit moderate to severe retardation.
  • Micrognathia (smaller jaw)
  • Hernias
  • Cleft palate
  • Rarer malformations can affect almost any organ

Trisomy 22 most often occurs in Meiosis I, during oogenesis (the creation of an egg cell).
Karyotype Cat Eye syndrome, also called Schmid-fraccaro Syndrome is caused by either trisomy 22 or tetrasomic 2. 
Cat eye syndrome got it's name because of the way it changes the appearance of the colobomas in the eye, but  over half of the people who have trisomy 22 do not have this trait. Some characteristics of trisomy 22 are:
  • Anal atresia (abnormal obstruction of the anus)
  • Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes)
  • Downward-slanting Palpebral fissures (openings between the upper and lower eyelids)
  • Preauricular pits/tags (small depressions/growths of skin on the outer ears)
  • Cardiac defects (such as TAPVR)
  • Kidney problems (missing, extra, or underdeveloped kidneys)
  • Short stature
  • Scoliosis/Skeletal problems
  • Mental retardation – although most are borderline normal to mildly retarded, and a few even have normal intelligence, CES patients occasionally exhibit moderate to severe retardation.
  • Micrognathia (smaller jaw)
  • Hernias
  • Cleft palate
  • Rarer malformations can affect almost any organ
Trisomy 22 most often occurs in Meiosis I, during oogenesis (the creation of an egg cell).
Karyotype of trisomy 22