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
Mosaic isochromosome 8p
β Scribed by Tilstra, David J. ;Grove, Marcia ;Spencer, Anne C. ;Norwood, Thomas H. ;Pagon, Roberta A.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 247 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
Abstract
Findings in a patient with mosaic isochromosome 8p are compared with those of previously reported cases. There were no distinguishing findings on physical examination; all had cognitive delays, especially in speech and language development. Β© 1993 WileyβLiss, Inc.
π SIMILAR VOLUMES
We report on 2 fetuses with prenatally diagnosed mosaic isochromosome 20q in amniotic fluid. Neither had an identifiable cytogenetic abnormality after birth. One infant developed a benign intracranial dermoid cyst at age 8 months. The other was completely normal in all respects. We are aware of 13 f