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

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

European journal of medical genetics - 1 Jan 2000

Chen Chih-Ping, Lin Shuan-Pei, Chern Schu-Rern, Chen Yann-Jang, Tsai Fuu-Jen, Wu Pei-Chen, Wang Wayseen

Abstract excerpt

We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Chromosomes, Human, Pair 2
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to In Situ Hybridization, Fluorescence

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Sequence Deletion

Share to Sodium Channels

Source

Identifiers

PMID: 20346423
DOI: 10.1016/j.ejmg.2010.03.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.PMID 20346423Read ↗

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.Semantic proximity Read ↗

Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGHSemantic proximity Read ↗

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.Semantic proximity Read ↗

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.Semantic proximity Read ↗

AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.Semantic proximity Read ↗

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.Semantic proximity Read ↗

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.Semantic proximity Read ↗

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Semantic proximity Read ↗

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.Semantic proximity Read ↗

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.Semantic proximity Read ↗

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.Semantic proximity Read ↗

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.Semantic proximity Read ↗

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