2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Albright hereditary osteodystrophy-like syndrome (AHO-like)
Brachydactyly-mental retardation syndrome (BDMR)
Case report
Macrocephaly
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
04 10 2022
04 10 2022
Historique:
received:
17
05
2022
accepted:
16
09
2022
entrez:
3
10
2022
pubmed:
4
10
2022
medline:
6
10
2022
Statut:
epublish
Résumé
2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 patients described worldwide. We describe a Colombian 3-year-old patient with verbal communication delay, umbilical hernia, facial dysmorphic features, hypotonia, and macrocephaly with normal magnetic resonance imaging. Microarray-based comparative genomic hybridization revealed a 5.9 Mb deletion in the 2q37.2 and 2q37.3 regions, eliminating 60 protein-coding genes in one of her chromosomes 2 and allowing the diagnosis of 2q37 deletion syndrome in this patient. Therapeutic interventions so far were the surgical correction of the umbilical hernia. Genetic tests are important tools for the diagnosis of clinically complex and infrequent conditions but also for timely diagnosis that allows appropriate surveillance, interventions, and genetic counseling. This case also provides information for expanding the phenotypical and genetic characterization of 2q37 deletion syndrome.
Sections du résumé
BACKGROUND
2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 patients described worldwide.
CASE PRESENTATION
We describe a Colombian 3-year-old patient with verbal communication delay, umbilical hernia, facial dysmorphic features, hypotonia, and macrocephaly with normal magnetic resonance imaging. Microarray-based comparative genomic hybridization revealed a 5.9 Mb deletion in the 2q37.2 and 2q37.3 regions, eliminating 60 protein-coding genes in one of her chromosomes 2 and allowing the diagnosis of 2q37 deletion syndrome in this patient. Therapeutic interventions so far were the surgical correction of the umbilical hernia.
CONCLUSIONS
Genetic tests are important tools for the diagnosis of clinically complex and infrequent conditions but also for timely diagnosis that allows appropriate surveillance, interventions, and genetic counseling. This case also provides information for expanding the phenotypical and genetic characterization of 2q37 deletion syndrome.
Identifiants
pubmed: 36192675
doi: 10.1186/s12887-022-03620-8
pii: 10.1186/s12887-022-03620-8
pmc: PMC9531440
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
569Informations de copyright
© 2022. The Author(s).
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