DEFINATION OF SYNDROME

DEFINATION OF SYNDROME

A syndrome represents a pattern of symptoms and signs common to a set of abnormal individuals. Clinical diagnosis of a chromosomal is in many instances difficult. It is based on features which, when taken alone, have no particular diagnostic value. Some of the symptoms like short stature, Low IQ, Mental retardation or aggressiveness may be commonly present in the population. Hence chromosomal disorder must not be suspected when a single such sign such observed, but only when several of them occurred together.
Among the autosomally transmitted diseases, the most common ones is Down syndrome and cri-du-chat syndrome, while most common sex chromosome abnormalities are turner syndrome and klinefelter syndrome. Other commonly reported syndromes are Edwards (trisomy 18), Patau’s (trisomy 13), Wolf-Hrischhorn (deletion of 4p), refractory anemia (deletion of 5q), Prader-Willi (depletion/translocation 15q), Angel man (deletion of 15q), Di George (Translocation 22q11).