Tandem duplication of proximal 5q

A. Rojas-Martinez, D. Garcia-Cruz, C. Medina, M. Moller, C. M. Restrepo, H. Rivera

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.

Original languageEnglish (US)
Pages (from-to)228-230
Number of pages3
JournalAnnales de Genetique
Issue number4
StatePublished - 1990
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics


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