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

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.

Molecular genetics & genomic medicine - 1 Sept 2024

Pang Ying, Zeng Lan, Liang Hua, Cheng Chunlan, Shan Lihui, Wang Jin, Jiang Nanjing, Pi Guanghuan, Yang Li, Chen Ai, Xiong Fu, Zhu Shuyao

Abstract excerpt

BACKGROUND: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. METHODS: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 4

Share to Exome Sequencing

Share to Infant

Share to Karyotyping

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 39225318
DOI: 10.1002/mgg3.70005
PMCID: PMC11369800

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.PMID 39225318Read ↗

Heterozygous Deletion of 10q24.31-q24.33: A New Syndrome Associated with Multiple Congenital AnomaliesSemantic proximity Read ↗

Proximal 4p Deletion Syndrome in a Woman With Developmental Delay: A Case Report and Literature ReviewSemantic proximity Read ↗

Identification of proximal 1p36 deletions using array‐CGH: a possible new syndromeSemantic proximity Read ↗

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication.Semantic proximity Read ↗

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.Semantic proximity Read ↗

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.Semantic proximity Read ↗

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy.Semantic proximity Read ↗

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.Semantic proximity Read ↗

16p13.11 deletion/duplication: prenatal diagnosis, postnatal outcome follow-up and phenotypic manifestations: a large cohort studySemantic proximity Read ↗

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphismSemantic proximity Read ↗

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.Semantic proximity Read ↗

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.Semantic proximity Read ↗

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