ArticleAmerican journal of medical genetics. Part A2010
Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 109 citations in OpenAlex.
- PRDM16, a new kid on the block in cardiovascular health and disease.Cardiovascular research · 2025Review
- Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.Molecular genetics & genomic medicine · 2025Article
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.American journal of medical genetics. Part A · 2023Article
- Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.Genes · 2021Article
- Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.International journal of environmental research and public health · 2021Article
- Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.BMC pediatrics · 2020Article
- Unrevealed mosaicism in the next-generation sequencing era.Molecular genetics and genomics : MGG · 2016Review
- 1p36 deletion syndrome: an update.The application of clinical genetics · 2015Review
- Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).Journal of human genetics · 2014Article
- Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.Disease markers · 2014Article
- Article
- Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Acta neuropathologica communications · 2013Article
- Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.American journal of human genetics · 2013Article
- Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.Cell · 2011Article
- Genetics of sudden cardiac death syndromes.Current opinion in cardiology · 2011Review
- Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.PloS one · 2011Article
- Breaking new ground: ExploringInternational journal of health sciencesArticle
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Deletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, implying that genomic instability plays a role in the prevalence of the syndrome. Here, we report two siblings with mild phenotypic features of the deletion syndrome, including developmental delay, hearing loss, and left ventricular non-compaction (LVNC). Microarray analysis using bacterial artificial chromosome and oligonucleotide microarrays indicated the deletions were identical, suggesting germline mosaicism. Parental phenotypes were normal, and analysis by fluorescence in situ hybridization (FISH) did not show mosaicism. These small interstitial deletions were not detectable by conventional subtelomeric FISH analysis. To investigate the mechanism of deletion further, the breakpoints were cloned and sequenced, demonstrating the presence of a complex rearrangement. Sequence analysis of genes in the deletion interval did not reveal any mutations on the intact homologue that may have contributed to the LVNC seen in both children. This is the first report of apparent germline mosaicism for this disorder. Thus, our findings have important implications for diagnostic approaches and for recurrence risk counseling in families with a child with monosomy 1p36. In addition, our results further refine the minimal critical region for LVNC and hearing loss.
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