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

Am J Med Genet. 1988 May-Jun;30(1-2):169-75. doi: 10.1002/ajmg.1320300115.

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.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Dermatoglyphics*
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / pathology
  • Humans
  • Male
  • Middle Aged
  • Sex Chromosome Aberrations / diagnosis*