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Prenatal diagnosis of mosaic tetrasomy 8p

✍ Scribed by Marie-Josée Le Bris; Pascale Marcorelles; Marie-Pierre Audrézet; Philippe Parent; Patrick Heren; Hélène Le Guern; Angèle Herry; Fréderic Morel; Michel Collet; Claude Férec; Marc De Braekeleer

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
84 KB
Volume
120A
Category
Article
ISSN
1552-4825

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We report on a patient with mosaic tetrasomy 8p [46,Xx147,XX+i(8p)l. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language sk

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