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:
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