Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Apr;4(4):197-202.
doi: 10.1159/000350040. Epub 2013 Apr 11.

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

P Prontera  1 , A Bartocci, V Ottaviani, I Isidori, D Rogaia, C Ardisia, G Guercini, A Mencarelli, E Donti
Affiliations
Case Reports

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

P Prontera et al. Mol Syndromol. 2013 Apr.

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.

Keywords: Aicardi syndrome; Autosomal inheritance; Genomic disorder; Sex-limited expression.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
A, B Note the facial dysmorphisms of the patient, in particular the strabismus, high forehead, fullness of periorbital region, prominent premaxilla, prognatism, short philtrum, open-mouth appearance, long mandible, thick lips. C Anterior-posterior X-ray projection of the vertebral column showing the moderate scoliosis. The MRIs show the partial agenesis of corpus callosum (D) and ventriculomegaly with gross cerebral asymmetry (E).
Fig. 2
Fig. 2
Results of the array-CGH analysis (CytoChip ISCA 4x44K v1.0 BlueGnome) showing the 6q27 deletion (A) and the 12q24.32q24.33 duplication (B). FISH on metaphase cells: C subtelomere specific 6qtel probe (green) and subtelomere specific 6ptel control probe (red) showing the 6q deletion. D Subtelomere specific 12qtel probe (green) and α-satellite chromosome 6 probe (red) as control, showing the 12q duplication on chromosome 6.
See this image and copyright information in PMC

References

    1. Aicardi J. Aicardi syndrome: old and new findings. Internat Pediatr. 1999;14:5–8.
    1. Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164–171. - PubMed
    1. Aicardi J, Levebre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol. 1965;19:609–610.
    1. Bertoni JM, von Loh S, Allen RJ. The Aicardi syndrome: report of 4 cases and review of the literature. Ann Neurol. 1979;5:475–482. - PubMed
    1. Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am J Med Genet A. 2009;149A:2493–2500. - PubMed

Publication types

LinkOut - more resources