< b>Cat eye syndrome: A constitutional chromosome abnormality (one that is
present at or before birth) with multiple malformations characterized by the combination
of a cat-like slit of the iris of the eye (vertical coloboma) and no anal opening
(anal atresia). Frequently there are also down slanting eye slits (palpebral fissures),
tissue tags or pits just in front of the ears, heart malformations and kidney anomalies.
There is usually normal or near-normal development with the cat eye syndrome,
unlike the situation with many other constitutional chromosome abnormalities, and
intelligence may be normal or near-normal in cat eye syndrome.
The syndrome is due to the presence of an extra small chromosome that is smaller
than chromosome 21, the smallest chromosome in humans. This extra abnormal chromosome
is derived from chromosome 22. (In technical terms, this chromosome represents an
inversion and duplication of chromosome band 22q11p.)
The name comes from the cat-like appearance of the iris of the eye.
medical
dictionary, online medical dictionary, medical
terminology dictionary, free online medical
dictionary, medical dictionary, online medical
dictionary, medical terminology dictionary, free
online medical dictionary, dictionary medical,
dictionary medical online, dictionary medical
terminology, dictionary free medical online,
dictionary free medical, dictionary medical
terms, dictionary drug medical medicine,
dictionary health illustrated medical nursing
profession stedmans, dictionary English medical,
dictionary medical online terminology,
dictionary encyclopedia medical online,
condition dictionary medical, dictionary
medical, dictionary drug medical, medical
dictionary software, cyclopedic dictionary index
medical tabers thumb, medical dictionary, online
medical dictionary, medical terminology
dictionary
