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Article

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

Congenital anomalies - 1 May 2015

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

Abstract excerpt

We report a case of a 13-year-old girl with a 5.4 Mb 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...

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Source

Identifiers

PMID: 25174267
DOI: 10.1111/cga.12080

Genes

GALNT13
KCNJ3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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