De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

C. Battisti, M. C. Bonaglia, S. Giglio, C. Anichini, L. Pucci, M. T. Dotti, O. Zuffardi, A. Federico

Research output: Contribution to journalArticle

Abstract

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.

Original languageEnglish
Pages (from-to)207-211
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number3
Publication statusPublished - Mar 15 2003

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Keywords

  • Axillary pterigium
  • Camptodactily
  • Chromosome rearrangements
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Battisti, C., Bonaglia, M. C., Giglio, S., Anichini, C., Pucci, L., Dotti, M. T., Zuffardi, O., & Federico, A. (2003). De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. American Journal of Medical Genetics, 117 A(3), 207-211.