Chromosome 18p Deletion Latest Advances

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Journal: Molecular cytogenetics

Published: July 12, 2025

TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.

Journal: American journal of medical genetics. Part A

Published: February 03, 2025

Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.

Journal: Diagnostics (Basel, Switzerland)

Published: December 09, 2024

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.

Journal: Autoimmunity reviews

Published: September 23, 2024

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

Journal: Italian journal of pediatrics

Published: August 19, 2024

Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.

Journal: Medicine

Published: July 26, 2024

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

Journal: BMC endocrine disorders

Published: June 03, 2024

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

Journal: Ophthalmic surgery, lasers & imaging retina

Published: April 06, 2023

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype.

Journal: Case reports in pediatrics

Published: December 18, 2022

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 30, 2022

Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient

Journal: Archivos argentinos de pediatria

Published: February 17, 2021

The genotype and phenotype of chromosome 18p deletion syndrome: Case series.

Journal: Medicine

Published: January 21, 2021

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Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.

TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.

Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.

Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.

Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype.

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype.

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient

Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient

The genotype and phenotype of chromosome 18p deletion syndrome: Case series.

The genotype and phenotype of chromosome 18p deletion syndrome: Case series.