Distal 18q Deletion Syndrome Latest Advances

18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges.

Journal: Reports (MDPI)

Published: March 26, 2025

Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.

Journal: AJNR. American journal of neuroradiology

Published: February 18, 2024

Atresia or severe stenosis of the external auditory canals with normal auricles in children

Journal: Vestnik otorinolaringologii

Published: May 15, 2023

Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.

Journal: Journal of medical case reports

Published: July 21, 2022

Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation.

Journal: The American journal of case reports

Published: June 24, 2022

Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports.

Journal: Medicine

Published: October 22, 2021

Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.

Journal: Frontiers in endocrinology

Published: September 14, 2021

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

Journal: International journal of immunopathology and pharmacology

Published: September 13, 2021

Case report of a novel phenotype in 18q deletion syndrome.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: April 05, 2021

Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation.

Journal: Neuro endocrinology letters

Published: February 28, 2019

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.

Journal: Molecular cytogenetics

Published: August 31, 2018

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Journal: Molecular cytogenetics

Published: June 09, 2016