Reassessment of the 12q15 deletion syndrome critical region

Viola Alesi, Sara Loddo, Marta Grispo, Simona Riccio, Andrea Costantino Montella, Bruno Dallapiccola, Lucia Ulgheri, Antonio Novelli

Research output: Contribution to journalArticle

Abstract

Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 deletion, sharing a 1.3 Mb small region of overlap (SRO) and presenting with developmental delay, nasal speech and mild dysmorphic features. We identified by microarray analysis a new case of 12q15 deletion. Our patient clinical features allow the refinement of the SRO to CNOT2, KCNMB4, and PTPRB genes, improving genotype-phenotype correlations.

Original languageEnglish
Pages (from-to)220-223
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume60
Issue number4
DOIs
Publication statusPublished - Apr 1 2017

Keywords

  • 12q interstitial deletion
  • 12q15

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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