Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

Am J Hum Genet. 1994 Mar;54(3):464-72.


We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • DNA / analysis
  • DNA / genetics
  • Deoxyribonuclease EcoRI
  • Deoxyribonuclease HindIII
  • Female
  • Genetic Markers
  • Growth
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length*


  • Genetic Markers
  • DNA
  • Deoxyribonuclease EcoRI
  • Deoxyribonuclease HindIII