Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

M. F. Schwartz, S. Kaffe, S. Wallace, R. J. Desnick

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.

Original languageEnglish
Pages (from-to)574-578
Number of pages5
JournalClinical Genetics
Volume26
Issue number6
DOIs
StatePublished - Dec 1984
Externally publishedYes

Keywords

  • Chromosome 6
  • deletion syndrome
  • developmental delay

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