ArticleCase reports in genetics2011
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome.
Article in Case reports in genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Recurrent Ptosis in a Case of Dubowitz Syndrome.Cureus · 2021Article
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.Molecular genetics & genomic medicine · 2021Article
- Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.Journal of human genetics · 2015Article
- Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.PloS one · 2014Article
- Dubowitz syndrome: common findings and peculiar urine odor.The application of clinical genetics · 2013Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.
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