MOSAIC TETRASOMY-8P

Authors
NEWTON D HAMMOND L WILEY J KUSHNICK T
Citation
D. Newton et al., MOSAIC TETRASOMY-8P, American journal of medical genetics, 46(5), 1993, pp. 513-516
Citations number
2
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
46
Issue
5
Year of publication
1993
Pages
513 - 516
Database
ISI
SICI code
0148-7299(1993)46:5<513:MT>2.0.ZU;2-8
Abstract
We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX + i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart de fects, 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, se nsorimotor, and motor skill testing. These findings are similar to tho se of the 3 previously reported patients with mosaic i(8p).