Article

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies

2025-01-16

Abstract excerpt

<h4>Background: </h4> Congenital diaphragmatic hernia (CDH) represents one of the most critical neonatal emergencies, whose timely recognition and appropriate management are essential to ensure patient survival. Genetic investigations play a crucial role for accurate diagnostic assessment, especially in those cases associated with other congenital defects and/or dysmorphic features. Interstitial deletions of chrom...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 238c9f4f-d477-5dd6-9067-88ad442661b1
DOI: 10.20944/preprints202501.1163.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline AnomaliesDOI 10.20944/preprints202501.1163.v1Read

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.Semantic proximity Read

Developmental and genetic aspects of congenital diaphragmatic hernia.Semantic proximity Read

Genetic causes of congenital diaphragmatic hernia.Semantic proximity Read

Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.Semantic proximity Read

Genetic aspects of human congenital diaphragmatic herniaSemantic proximity Read

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.Semantic proximity Read

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.Semantic proximity Read

Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic herniasSemantic proximity Read

Underlying genetic etiologies of congenital diaphragmatic herniaSemantic proximity Read

De novo copy number variants are associated with congenital diaphragmatic hernia.Semantic proximity Read

Genetics of diaphragmatic hernia.Semantic proximity Read

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)Semantic proximity Read