2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

• Published in: BMC pediatrics Vol. 24; no. 1; pp. 641 - 12
• Main Authors: Candelo, Estephania, Giraldo-Ocampo, Sebastian, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 09.10.2024; BioMed Central; BMC
• Subjects: 2q31-q32 microdeletion; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Analysis; Array CGH; Care and treatment; Case Report; Child; Chromosome Deletion; Chromosomes, Human, Pair 2 - genetics; Comparative analysis; Comparative Genomic Hybridization; Complications and side effects; Congenital heart disease; DiGeorge Syndrome - complications; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Facial dysmorphism; Female; Genetic aspects; Genetic disorders; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart diseases; Humans; Instrument industry; Phelan-McDermid syndrome; Phenotype; Prevention; Risk factors; Seizures (Medicine); Velocardiofacial syndrome; United States; Colombia; Velocardiofacial syndrome; Facial dysmorphism; 2q31-q32 microdeletion; Array CGH
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-024-04843-7

The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic, low-set ears. To date, comparative genomic hybridization has identified this deletion in 38 patients. Consequently, additional patients with comprehensive clinical data are required to fully understand the spectrum of clinical manifestation associated with a deletion in the 2q31 cytoband. We present the case of an 8-year-old female patient with clinical features of velocardiofacial syndrome, which include facial dysmorphism, congenital heart disease (persistent truncus arteriosus and ostium secundum-type atrial septal defect), and a seizure syndrome. Array comparative genomic hybridization revealed a non-continous deletion spanning cytobands 2q31.1-to 2q31.3, confirming a diagnosis of 2q31 microdeletion syndrome. The patient has undergone supportive therapies for swallowing and speech. Additionally, we provide a review of the literature on previous cases to give context. In this report, we present the first documented case of a complex, discontinuous deletion spanning in the 2q31-2q32 regions. This case contributes to our understanding of the phenotypic and mutational spectrum observed in individuals with deletions in these cytobands. It underscores the significance of employing high-resolution techniques and comprenhensive analysis in diagnosing patients with complex phenotypes. Such approaches are crucial for differentiating this condition from more common microdeletion syndromes, such as the 22q11 deletion syndrome.