Screening for Turner syndrome: how useful is the buccal smear test?

ABSTRACT

The buccal smear test was used to screen for Turner syndrome in a sample of girls with severe short stature who did not have any other clinical features of that condition. The majority of the girls did not show X chromatin bodies in the buccal mucosal cells. None of those who qualified for chromosomal analysis showed an XO chromosomal pattern either. We conclude that reliability of the buccal smear test as a screening method for Turner syndrome remains doubtful.