Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2→q24.3)] Inherited from a mother mosaic for the abnormality

Vijay Tonk, Nancy R. Schneider, Mauricio R. Delgado, Jen I. Mao, Roger A. Schultz

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY, dir dup(10)(q24.2→q24.3)], inherited from their clinically normal mother, who was found to be mosaic for the duplicated chromosome 10. Fluorescence in situ hybridization approaches, including total chromosome painting and the use of regional specific cosmid probes, were used to confirm the chromosome 10q origin of the duplicated material. This is the smallest confirmed duplication of this portion of chromosome 10 reported to date.

Original languageEnglish (US)
Pages (from-to)16-20
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume61
Issue number1
DOIs
StatePublished - Jan 2 1996

Keywords

  • cytogenetics
  • dup(10q) syndrome
  • mosaicism
  • partial chromosome duplication

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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