A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

D. Concolino, M. A. Iembo, M. T. Moricca, M. Rapsomaniki, R. Marotta, O. Galesi, M. Fichera, C. Romano, P. Strisciuglio

Research output: Contribution to journalArticle

Abstract

We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 → qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome.

Original languageEnglish
Pages (from-to)67-70
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume55
Issue number1
DOIs
Publication statusPublished - Jan 2012

Keywords

  • 8q22.2 → 8q24.3
  • Partial duplication 8q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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