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Mosaic tetrasomy 8p

✍ Scribed by Newton, Dale ;Hammond, Lyn ;Wiley, John ;Kushnick, Theodore

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 393 KB
Volume: 46
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320460510

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✦ Synopsis

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 skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p).

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