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

doi:10.1111/cga.12080

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article

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 language	English
Pages (from-to)	107-111
Number of pages	5
Journal	Congenital Anomalies
Volume	55
Issue number	2
DOIs	https://doi.org/10.1111/cga.12080
Publication status	Published - 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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10.1111/cga.12080

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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

Microdeletion 2q23.3q24.1 : Exploring genotype-phenotype correlations. / Milani, Donatella; Sabatini, Caterina; Manzoni, Francesca Maria Paola; Ajmone, Paola Francesca; Rigamonti, Claudia; Malacarne, Michela; Pierluigi, Mauro; Cavani, Simona; Costantino, Maria Antonella.

In: Congenital Anomalies, Vol. 55, No. 2, 01.05.2015, p. 107-111.

Research output: Contribution to journal › Article

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