Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome

Am J Med Genet. 1997 Oct 31;72(3):319-23.


We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Chromosome Banding
  • Chromosomes, Human, Pair 13*
  • DNA Mutational Analysis
  • Dinucleotide Repeats
  • Gene Deletion
  • Heart Defects, Congenital / genetics
  • Humans
  • Karyotyping
  • Male
  • Microcephaly / genetics
  • Microsatellite Repeats
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • Ring Chromosomes*
  • Syndrome