DIRECT TRANSMISSION OF A TANDEM DUPLICATION IN THE SHORT ARM OF CHROMOSOME-8

Authors
DHOOGE C VANROY N CRAEN M SPELEMAN F
Citation
C. Dhooge et al., DIRECT TRANSMISSION OF A TANDEM DUPLICATION IN THE SHORT ARM OF CHROMOSOME-8, Clinical genetics, 45(1), 1994, pp. 36-39
Citations number
21
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
45
Issue
1
Year of publication
1994
Pages
36 - 39
Database
ISI
SICI code
0009-9163(1994)45:1<36:DTOATD>2.0.ZU;2-L
Abstract
A family is described in which a mother and her two children carry a t andem duplication of the short arm of chromosome 8. Their phenotypes a re similar and characterised by distinct facial dysmorphism, small sta ture and mild mental retardation. This is one of the first cases of di rect familial transmission of a partial duplication of an autosomal ch romosome segment.