Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.

BMC research notes - 29 Apr 2024

Almeida Vanessa Tavares, Chehimi Samar N, Carvalho Gleyson F S, Gasparini Yanca, Nascimento Amom M, Vieira Lucas L, Wolff Beatriz M, Montenegro Marília M, Kulikowski Leslie D

Abstract excerpt

Cri Du Chat syndrome, or 5p- syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable clinical manifestations, including high-pitched cry in newborns, delayed growth, and global development. Different cytogenomic rearrangements, family history, and environmental factors may hinder the genotype-phenotype association. Thus, the phenotypic variability of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 5

Share to DNA Methylation

Share to Infant

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38679724
DOI: 10.1186/s13104-024-06734-7
PMCID: PMC11057176

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.PMID 38679724Read ↗

Variability in a family with an insertion involving 5p.Semantic proximity Read ↗

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.Semantic proximity Read ↗

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.Semantic proximity Read ↗

5p deletions: Current knowledge and future directions.Semantic proximity Read ↗

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.Semantic proximity Read ↗

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.Semantic proximity Read ↗

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk EstimationSemantic proximity Read ↗

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].Semantic proximity Read ↗

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.Semantic proximity Read ↗

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Semantic proximity Read ↗

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.Semantic proximity Read ↗

Cri du Chat syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.