Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

Donatella Milani, Caterina Sabatini, Francesca Maria Paola Manzoni, Paola Francesca Ajmone, Claudia Rigamonti, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Antonella Costantino

Research output: Contribution to journalArticle

Abstract

We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.

Original languageEnglish
Pages (from-to)107-111
Number of pages5
JournalCongenital Anomalies
Volume55
Issue number2
DOIs
Publication statusPublished - May 1 2015

Keywords

  • 2q deletion
  • 2q23q24
  • Array-comparative genomic hybridization
  • Behavioral disorders

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Medicine(all)

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    Milani, D., Sabatini, C., Manzoni, F. M. P., Ajmone, P. F., Rigamonti, C., Malacarne, M., Pierluigi, M., Cavani, S., & Costantino, M. A. (2015). Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations. Congenital Anomalies, 55(2), 107-111. https://doi.org/10.1111/cga.12080