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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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