ArticleMolecular syndromology2013
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.Prenatal diagnosis · 2022Article
- Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.International journal of molecular sciences · 2017Review
- Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.Molecular syndromology · 2016Article
- Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.Journal of autism and developmental disorders · 2014Article
- DPP6 gene disruption in a family with Gilles de la Tourette syndrome.Neurogenetics · 2014Article
- Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound.World journal of radiology · 2014Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a girl with AIS lead us to identify a 6q deletion;12q duplication, derived from a maternal 6q;12q translocation. The two intellectually impaired brothers of the proband showed the same genomic anomalies, but not the constellation of features characterizing the AIS. This could be either a coincidental observation of 2 rare conditions, but can also suggest an alternative hypothesis for the genetic etiology of AIS, indicating the existence of a subset of autosomal genes whose mutation could act in a sex-confined manner.
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Registered trials
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