The predictive value of dermatoglyphic anomalies in the diagnosis of fra(X)-positive Martin-Bell syndrome (MBS)
In a representative group of 160 institutionalized mentally retarded males without Down syndrome, prospective dermatoglyphic-cytogenetic studies were performed in order to assess the utility of the dermatoglyphic index system of Rodewald [1986] for an efficient ascertainment of patients with Martin-Bell syndrome (MBS). A negative (abnormal) score was found in 32 men (20 +/- 3%), 14 of whom (predictive value: 44 +/- 9%) were fra(X)-positive. This prevalence of 14/160 = 9 +/- 2% patients with fra(X)-positive MBS indicates that in our study most, if not all, MBS patients have been detected by the simple pre-screening of dermatoglyphics. In the MBS patients, there was no correlation between the dermatoglyphic scores and percentage of fra(X)-positive cells.
Langenbeck
U
U
Institute of Human Genetics, University of Göttingen, F.R. Germany.
Varga
I
I
Hansmann
I
I
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003878:Dermatoglyphics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*