ArticleBMC medical genetics2008
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 50 citations in OpenAlex.
- Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.Biomedical reports · 2026Article
- Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.European journal of human genetics : EJHG · 2023Article
- Congenital heart defects and copy number variants associated with neurodevelopmental impairment.American journal of medical genetics. Part A · 2022Article
- Identification of energy metabolism-related biomarkers for risk prediction of heart failure patients using random forest algorithm.Frontiers in cardiovascular medicine · 2022Article
- 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.Italian journal of pediatrics · 2021Article
- CHD2-Related CNS Pathologies.International journal of molecular sciences · 2021Review
- Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Journal of pediatric genetics · 2017Article
- Relationships of circular RNA with diabetes and depression.Scientific reports · 2017Article
- A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.Endocrine connections · 2017Article
- Creation of mutant mice with megabase-sized deletions containing custom-designed breakpoints by means of the CRISPR/Cas9 system.Scientific reports · 2017Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- Genetic basis of congenital cardiovascular malformations.European journal of medical genetics · 2014Review
- MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.Human molecular genetics · 2013Article
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.European journal of human genetics : EJHG · 2013Article
- Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.Journal of medical case reports · 2012Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSubtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare.
methodsIn this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k) genome-wide array-based comparative genomic hybridization (CGH).
resultsAfter an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to encompass a 6.48 megabase (Mb) region, ranging from 93.86-100.34 Mb on chromosome 15.
conclusionIn conclusion, we present an additional case to the growing family of reported cases with 15q26-deletion, thoroughly characterized at the molecular cytogenetic level. In the deleted regions, four candidate genes responsible for the phenotype of the patient could be delineated: IGFR1, MEF2A, CHSY1, and TM2D3. Further characterization of additional patients harboring similar 15q-aberrations might hopefully in the future lead to the description of a clear cut clinically recognizable syndrome.
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