Familial Interstitial Duplication of 11q; Partial Trisomy (11)(q13.5q21)

Krishna K. Yelavarthi, Janice Zunich

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

Original languageEnglish (US)
Pages (from-to)423-426
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume126 A
Issue number4
DOIs
StatePublished - May 2004

Keywords

  • Developmental delay
  • Duplication 11q
  • Fluorescence in situ hybridization
  • Partial trisomy

ASJC Scopus subject areas

  • Genetics(clinical)

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