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Association of the Shank3 gene mutations coupled with the 22q13.3 deletion syndrome

โœ Scribed by Balachandar, V.; Sureshkumar, S.; Arun, M.; Sankar, K.; Balamuralikrishnan, B.; Sasikala, K.

Book ID
122579105
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
58 KB
Volume
333
Category
Article
ISSN
0022-510X

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Interstitial deletion of 8q13.3โ†’ 22.1 associated with craniosynostosis
โœ Fryburg, Julie S. ;Golden, Wendy L. ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 730 KB

We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX, de1(8)(q13.3q22.1)1. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The ma