ArticleMolecular cytogenetics2018
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.
Article in Molecular cytogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.Molecular cytogenetics · 2024Article
- Other Types of Glycosylation.Advances in experimental medicine and biology · 2021Article
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8 authors at 1 institution in 1 country.
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Abstract
backgroundChiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel's deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel's deformity have been previously reported, both of these defects are considered to be sporadic, thus the exact etiology and causative genes have largely remained unknown. CASE PRESENTATION: The patient was diagnosed with CM-II accompanied with Sprengel's deformity. Further genetic investigation revealed a novel 666 kb microdeletion located in 3q29 (chr3:194,532,035-195,198,585; Hg19). Subsequently, genes within the affected region were summarized, and
conclusionWe reported a case of a patient with CM-II and Sprengel's deformity harboring a microdeletion in 3q29. This case highlights the importance of 3q29 in early neural and skeletal development, as well as expands the phenotype spectrum of this rare disorder.
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