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Case Reports
. 2014 Oct;140(4):570-1.

Cri-du-chat syndrome

R Nandhagopal  1 , A M Udayakumar
Affiliations
Case Reports

Cri-du-chat syndrome

R Nandhagopal et al. Indian J Med Res. 2014 Oct.
No abstract available

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Figures

Fig
Fig
(A). G-banded karyotype (× 1500 magnification) showing 46,XX,del(5)(p15). Arrow indicates the breakpoint on p-arm of chromosome 5. (B). FISH (× 1000 magnification) using telomeric probes (Aquarius) for chromosome 5p (red) and 5q(green). Arrow indicates the absence of FISH signal on 5p confirming the deletion. (C-E). Brain MRI demonstrating complete corpus agenesis of corpus callosum (thick straight arrows in C, D and E), radial arrangement of medial hemispheric sulci, absence of cingulate sulcus, splaying of anterior part of the lateral ventricles (arrowheads in D), colpocephaly (stars pointing to the enlarged occipital horns of the lateral ventricle in E) and high riding third ventricle (a single circle in D) and pontine hypoplasia (a single thin straight arrow in C and inset).
See this image and copyright information in PMC

References

    1. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33. - PMC - PubMed
    1. Ninchoji T, Takanashi J. Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis. Brain Dev. 2010;32:571–3. - PubMed
    1. Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn. 2005;25:311–3. - PubMed

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