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

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 c...

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Bibliographic Details
Published in:Congenital anomalies 2015-05, Vol.55 (2), p.107-111
Main Authors: Milani, Donatella, Sabatini, Caterina, Manzoni, Francesca Maria Paola, Ajmone, Paola Francesca, Rigamonti, Claudia, Malacarne, Michela, Pierluigi, Mauro, Cavani, Simona, Costantino, Maria Antonella
Format: Article
Language:English
Subjects:
2q deletion
2q23q24
Adolescent
array‐comparative genomic hybridization
behavioral disorders
Chromosome Banding
Chromosome Deletion
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Female
Genetic Association Studies
Genotype
Genotype & phenotype
Humans
In Situ Hybridization, Fluorescence
Neuropsychological Tests
Phenotype
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Summary: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.
ISSN:0914-3505
1741-4520
DOI:10.1111/cga.12080