Proximal interstitial 6q deletion: A recognizable syndrome

R. Kumar, D. Riordan, A. J. Dawson, A. E. Chudley*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the nine previous reported cases of the proximal deletion 6q syndrome.

Original languageEnglish (US)
Pages (from-to)353-356
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 1997


  • Birth defects
  • Chromosome anomaly
  • Connective tissue dysplasia
  • Interstitial deletion
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)


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