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

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.

Journal of cellular and molecular medicine - 1 Feb 2026

Eslahi Atieh, Kahaei Mir Salar, Shirvan Bita Barazandeh, Alerasool Masoome, Tabarestani Sepideh, Rezaie Razie, Hashemi Narges, Akhondian Javad, Arabi Mobina, Ebrahimzadeh Farnoosh, Toosi Mehran Beiraghi, Mojarrad Majid

Abstract excerpt

Clinical manifestations of 1p36.33 duplications vary depending on duplication size. This region is prone to copy number variants associated with diverse phenotypes. We report a novel 1p36.33p36.32 duplication in a patient with developmental delay and facial dysmorphism. The causative duplication was detected by whole-genome Oligo-array CGH and confirmed by real-time PCR. Integrative bioinformatic...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 1

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

Share to Comparative Genomic Hybridization

Share to Computational Biology

Share to Computer Simulation

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 41738692
DOI: 10.1111/jcmm.71079
PMCID: PMC12933876

Genes

DVL1
GABRD
GNB1
MB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.PMID 41738692Read ↗

A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate.Semantic proximity Read ↗

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Semantic proximity Read ↗

Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.Semantic proximity Read ↗

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.Semantic proximity Read ↗

Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.Semantic proximity Read ↗

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.Semantic proximity Read ↗

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.Semantic proximity Read ↗

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.Semantic proximity Read ↗

Oligogenic effects of 16p11.2 copy number variation on craniofacial developmentSemantic proximity Read ↗

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Semantic proximity Read ↗

[Clinical and genetic analysis of a case with 2p23.2p22.1 duplication].Semantic proximity Read ↗

16p11.2 Duplication Syndrome - a Case Report.Semantic proximity Read ↗

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