Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome

Hum Genet. 1993 Feb;90(6):657-60. doi: 10.1007/BF00202487.


We used probes from the juxta-centromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly. We demonstrated, using Southern blot analysis (loss of heterozygosity and gene dosage), that all patients were deleted for two p11.2 markers: pYNM 67-R5 (D17S29) and pA10-41 (D17S71). We determined that one breakpoint was located between D17S58 and D17S29 and the other breakpoint distal to D17S71. The possibility that an unstable region, located between the Smith-Magenis syndrome locus and CMT1A a closely located locus, could be involved in the rearrangements associated with these two inherited diseases is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Blotting, Southern
  • Charcot-Marie-Tooth Disease / genetics
  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 17*
  • DNA Probes
  • Humans
  • Intellectual Disability
  • Male
  • Pedigree
  • Physiognomy
  • Polymerase Chain Reaction
  • Self Mutilation
  • Syndrome


  • DNA Probes