Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.

Authors

Alireza Eshghi, Marzieh Asgharyan Fargi, Masoume Pandi, Behnoosh Tasharrofi

Published in

Molecular biology reports. Volume 53. Issue 1. Sep 27, 2026. Epub Sep 27, 2026.

Abstract

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.
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.
This case expands the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underlying disease mechanisms.

PMID:
42801375
Bibliographic data and abstract were imported from PubMed on 28 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.