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

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

European journal of medical genetics - 1 Jan 2000

Beaujard Marie-Paule, Chantot Sandra, Dubois Michèle, Keren Boris, Carpentier Wassila, Mabboux Philippe, Whalen Sandra, Vodovar Michel, Siffroi Jean-Pierre, Portnoï Marie-France

Abstract excerpt

Despite the heterogeneous clinical presentations, the majority of patients with 22q11.2 deletion syndrome (22q11.2 DS) have either a common recurrent 3 Mb deletion or a less common, 1.5 Mb nested deletion, with breakpoint sites in flanking low-copy repeats (LCR) sequences. Only a small number of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

Share to Gene Frequency

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

Share to Physical Chromosome Mapping

Share to T-Box Domain Proteins

Source

Identifiers

PMID: 19467348
DOI: 10.1016/j.ejmg.2009.05.010

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19467348-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.PMID 19467348Read ↗

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.Semantic proximity Read ↗

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.Semantic proximity Read ↗

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Semantic proximity Read ↗

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Semantic proximity Read ↗

Role of TBX1 in human del22q11.2 syndrome.Semantic proximity Read ↗

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Semantic proximity Read ↗

Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Semantic proximity Read ↗

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.Semantic proximity Read ↗

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.Semantic proximity Read ↗

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.Semantic proximity Read ↗

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