1q44-qter trisomy: clinical report and review of the literature.

Elisabetta Lenzini, Lucia Ballarati, Paola Drigo, Marco Carrozzi, Daniela Gambel-Benussi, Daniela Giardino, Vincenzo Petix, Melissa Rosa Rizzotto, Vanna Pecile

Research output: Contribution to journalArticle

Abstract

Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.

Original languageEnglish
Pages (from-to)79-86
Number of pages8
JournalGenetic Testing and Molecular Biomarkers
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2009

ASJC Scopus subject areas

  • Genetics(clinical)

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