19q13 microdeletion syndrome: Further refining the critical region

Francesca Forzano, Flavia Napoli, Vera Uliana, Michela Malacarne, Chiara Viaggi, Raffaella Bloise, Domenico Coviello, Emilio Di Maria, Irene Olivieri, Natascia Di Iorgi, Francesca Faravelli

Research output: Contribution to journalArticlepeer-review

Abstract

The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far. Growth deficiency, microcephaly, ectodermal anomalies and intellectual disability are the major features reported in all the described cases. The critical region has been estimated to span 750 Kb. We report an Italian patient carrying a de novo 1.37 Mb deletion in chromosome 19q13, who presented all the cardinal features of the syndrome, and multiple pituitary hormone deficiency. Our findings might contribute to further refine the critical region to 460 Kb and restrict the list of candidate genes.

Original languageEnglish
Pages (from-to)429-432
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume55
Issue number6-7
DOIs
Publication statusPublished - 2012

Keywords

  • 19q13 microdeletion syndrome
  • Aplasia cutis
  • Array-CGH
  • Microcephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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