FAMILIAL UNBALANCED TRANSLOCATION T(8 15)(P23.3 Q11) WITH UNIPARENTALDISOMY IN ANGELMAN SYNDROME

Authors
SMITH A DENG ZM BERAN R WOODAGE T TRENT RJ
Citation
A. Smith et al., FAMILIAL UNBALANCED TRANSLOCATION T(8 15)(P23.3 Q11) WITH UNIPARENTALDISOMY IN ANGELMAN SYNDROME, Human genetics, 93(4), 1994, pp. 471-473
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
93
Issue
4
Year of publication
1994
Pages
471 - 473
Database
ISI
SICI code
0340-6717(1994)93:4<471:FUTT1Q>2.0.ZU;2-F
Abstract
A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15,+der(8),t(8;15)(p23.3;q11)pat, was evalu ated with DNA studies. These showed the underlying mechanism to be pat ernal uniparental disomy. This is the second case reported of Angelman syndrome that has resulted from a familial unbalanced reciprocal tran slocation.