ArticleAmerican journal of medical genetics. Part A2009
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- The structure and function of protein kinase C-related kinases (PRKs).Biochemical Society transactions · 2021Review
- PKC and PKN in heart disease.Journal of molecular and cellular cardiology · 2019Review
- Perinatal findings in a patient with a novel large chromosome 19p deletion.Clinical case reports · 2018Article
- Protein kinase N1 critically regulates cerebellar development and long-term function.The Journal of clinical investigation · 2018Article
- 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Molecular cytogenetics · 2016Article
- A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.Molecular cytogenetics · 2014Article
- Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.American journal of medical genetics. Part A · 2012Article
- Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.European journal of human genetics : EJHG · 2010Article
- Cervical Ectopic Salivary Gland Fistula in Siblings With Branchio-Oto Syndrome.Pediatrics international : official journal of the Japan Pediatric SocietyArticle
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Authors and funding
11 authors.
Funding
Abstract
We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare.
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