ArticleJournal of applied genetics2017
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Article in Journal of applied genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Epstein-Barr virus (EBV) -related Hodgkin lymphoma in a 1-year-old child with DiGeorge syndrome.BMC pediatrics · 2026Article
- Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.Molecular genetics & genomic medicine · 2025Article
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.Endocrine, metabolic & immune disorders drug targets · 2024Review
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.Orphanet journal of rare diseases · 2023Review
- Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome.American journal of ophthalmology case reports · 2022Article
- Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.Journal of clinical medicine · 2022Article
- Inherited glomerular diseases in the gilded age of genomic advancements.Pediatric nephrology (Berlin, Germany) · 2020Review
- Prenatal diagnosis of rearrangements in the fetal 22q11.2 region.Molecular cytogenetics · 2020Article
- A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.Molecular genetics & genomic medicine · 2019Article
- Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.Orphanet journal of rare diseases · 2019Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.
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