PARTIAL TRISOMY OF THE CHROMOSOME-8 IN A 12-MONTH-OLD GIRL (46,XX, 8P-PTER))(, DUP (P11)

Authors
WINGENFELD P HERKENRATH P SCHLENSKER S MICHALK D
Citation
P. Wingenfeld et al., PARTIAL TRISOMY OF THE CHROMOSOME-8 IN A 12-MONTH-OLD GIRL (46,XX, 8P-PTER))(, DUP (P11), Monatsschrift fur Kinderheilkunde, 142(11), 1994, pp. 872-875
Citations number
NO
Categorie Soggetti
Pediatrics
Journal title
Monatsschrift fur Kinderheilkunde → ACNP
ISSN journal
00269298
Volume
142
Issue
11
Year of publication
1994
Pages
872 - 875
Database
ISI
SICI code
0026-9298(1994)142:11<872:PTOTCI>2.0.ZU;2-0
Abstract
A 12 month old girl was discovered to have a total duplication of the short arm of the chromosome 8 as the cause of characteristic craniofac ial dysmorphies, mental retardation and a floppy infant syndrome. The agenesis of the corpus callosum seems to be a constant feature of the dysmorphic syndrome.