Academic Journal
Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.
| Τίτλος: | Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations. |
|---|---|
| Συγγραφείς: | Eshghi A; Department of pediatric pulmonology, school of medicine, Ali Asghar children's hospital, Iran University of Medical Sciences, Tehran, Iran., Fargi MA; Clinical Immunology, Aliasghar Clinical Research Development Center, Department of Pediatric, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Pandi M; Pediatric Gastroenterology and Hepatology Specialist, Aliasghar Clinical Research Development Center, Department of Pediatric, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Tasharrofi B; Ali Asghar clinical research development center, Ali Asghar Children Hospital,, Iran University of Medical Sciences, Tehran, Iran. behnooshtasharrofi63@gmail.com. |
| Πηγή: | Molecular biology reports [Mol Biol Rep] 2026 Sep 27; Vol. 53 (1). Date of Electronic Publication: 2026 Sep 27. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Dordrecht, Boston, Reidel. |
| Ιατρικοί όροι (MeSH): | Cardiomegaly*/genetics , Gastrointestinal Diseases*/genetics, Chromosomes, Human, Pair 19/genetics ; Abnormalities, Multiple/genetics ; Heart Defects, Congenital/genetics ; Humans ; Female ; Chromosome Deletion ; Infant ; Phenotype ; Comparative Genomic Hybridization ; Fatal Outcome |
| Περίληψη: | Background: Chromosome 19p13.3 microdeletion syndrome is a rare and clinically heterogeneous genomic disorder. It is typically characterized by a wide spectrum of manifestations, including global developmental delay, various congenital anomalies, and distinct craniofacial dysmorphisms. Current literature suggests that phenotypic severity and the specific symptoms are highly dependent on the precise size and gene content of the deleted region. Methods and Results: Here we report the case of an 8-month-old female infant referred for evaluation of multisystemic complications. Clinical examination revealed a complex phenotype characterized by congenital heart defects, limb anomalies, macrocephaly, and recurrent pulmonary infections. Oligo-Array CGH revealed a 1.8 Mb deletion encompassing 55 genes. Although gastrointestinal symptoms have rarely been reported in this condition, the patient presented with gastrointestinal complications including vomiting and diarrhea. Conclusion: This case expands the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underlying disease mechanisms. (© 2026. The Author(s), under exclusive licence to Springer Nature B.V.) |
| Competing Interests: | Declarations. Ethics approval: The study’s protocol received approval from the Iran University of Medical Sciences ethics committee. Consent to participate: Written informed consent was obtained from the parents. Competing interests: The authors declare no competing interests. |
| References: | Mol Cytogenet. 2016 May 27;9:40. (PMID: 27239227) Clin Case Rep. 2026 Feb 11;14(2):e72024. (PMID: 41694643) Case Rep Genet. 2018 Apr 30;2018:2492437. (PMID: 29854496) Am J Med Genet A. 2023 Jan;191(1):120-129. (PMID: 36271830) Ital J Pediatr. 2022 May 4;48(1):65. (PMID: 35509048) Clin Genet. 2020 Mar;97(3):467-476. (PMID: 31972898) Clin Genet. 2014 Feb;85(2):138-46. (PMID: 23379592) Eur J Med Genet. 2016 Nov;59(11):559-563. (PMID: 27751966) J Neurochem. 2019 Oct;151(1):103-115. (PMID: 31318984) J Med Genet. 2006 Nov;43(11):833-42. (PMID: 16825433) BMC Pediatr. 2025 Jan 28;25(1):70. (PMID: 39875952) Biochem Biophys Res Commun. 2025 Jul 22;771:152026. (PMID: 40398093) |
| Contributed Indexing: | Keywords: 19p13.3 Microdeletion; Cardiomegaly; Oligo-Array CGH; Recurrent pulmonary infections |
| Entry Date(s): | Date Created: 20260927 Date Completed: 20260927 Latest Revision: 20261008 |
| Update Code: | 20261008 |
| DOI: | 10.1007/s11033-026-12791-x |
| PMID: | 42801375 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1573-4978 |
|---|---|
| DOI: | 10.1007/s11033-026-12791-x |