Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect

Barbara K. Goodman, George T. Capone, Jill Hennessey, George H. Thomas

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3) with a mild clinical phenotype. Affected family members include a 27-year-old woman and 2 of her 4 children, 1 of whom also has Klinefelter syndrome. Although 8 cases of simple duplications or insertions of 4q material have been described, only 3 include bands q31-q32, and these involve additional adjacent material. Affected members of the pedigree reported here have some of the manifestations of previously described cases of duplication 4q, but are less severely affected, suggesting that the genetic material in this region is well tolerated as a partial trisomy.

Original languageEnglish (US)
Pages (from-to)119-124
Number of pages6
JournalAmerican journal of medical genetics
Volume73
Issue number2
DOIs
StatePublished - Dec 12 1997

Keywords

  • Interstitial duplication 4q
  • Psychomotor retardation
  • Tandem duplication 4q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect'. Together they form a unique fingerprint.

Cite this