The predictive value of dermatoglyphic anomalies in the diagnosis of fra(X)‐positive Martin‐Bell syndrome (MBS)

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Abstract
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.