Definition
Cri‐du‐chat syndrome is a severe disorder (1:20,000 newborns) caused by terminal 5p15.2 deletion and characterized by growth retardation, round face in infancy contrasting with growth deficiency of the body, facial hemangiomas, strabism, heart defect in 30% of patients, hypotonia and severe mental retardation. The characteristic cat‐like cry in infancy also occurs in the rare, mild variant with deletion of only 5p15.32.
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© 2005 Springer-Verlag
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(2005). Cri‐Du‐Chat Syndrome. In: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-29623-9_6651
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DOI: https://doi.org/10.1007/3-540-29623-9_6651
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-44244-8
Online ISBN: 978-3-540-29623-2
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