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

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

American journal of medical genetics. Part A - 15 Dec 2007

Stachon Andrea C, Baskin Berivan, Smith Adam C, Shugar Andrea, Cytrynbaum Cheryl, Fishman Leona, Mendoza-Londono Roberto, Klatt Regan, Teebi Ahmed, Ray Peter N, Weksberg Rosanna

Abstract excerpt

22q11 Deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans, occurring with an incidence of 1 in 4,000. In most cases the submicroscopic deletion spans 3 Mb, but there are a number of other overlapping and non-overlapping deletions that generate a similar phenotype. The...

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 Gene Deletion

Share to Gene Duplication

Share to Genetic Techniques

Share to In Situ Hybridization, Fluorescence

Share to Oligonucleotide Probes

Share to Syndrome

Source

Identifiers

PMID: 18000985
DOI: 10.1002/ajmg.a.32101

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18000985-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.PMID 18000985Read ↗

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndromeSemantic proximity Read ↗

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplicationSemantic proximity Read ↗

Detailed analysis of 22q11.2 with a high density MLPA probe set.Semantic proximity Read ↗

[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].Semantic proximity Read ↗

[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].Semantic proximity Read ↗

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsSemantic proximity Read ↗

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot SamplesSemantic proximity Read ↗

Genotype-phenotype correlation in 22q11.2 deletion syndrome.Semantic proximity Read ↗

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.Semantic proximity Read ↗

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.Semantic proximity Read ↗

Atypical copy number abnormalities in 22q11.2 region: report of three cases.Semantic proximity Read ↗

Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCRSemantic proximity Read ↗

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