DOWN-SYNDROME WITH UNUSUAL CHROMOSOME-TRANSLOCATION - CASE-REPORT ANDREVIEW

Authors
BRUNI L CAPOLINO R TOZZI MC COLLORIDI F SMACCHIA MP
Citation
L. Bruni et al., DOWN-SYNDROME WITH UNUSUAL CHROMOSOME-TRANSLOCATION - CASE-REPORT ANDREVIEW, Annales de genetique, 39(4), 1996, pp. 240-242
Citations number
19
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
39
Issue
4
Year of publication
1996
Pages
240 - 242
Database
ISI
SICI code
0003-3995(1996)39:4<240:DWUC-C>2.0.ZU;2-1
Abstract
We report a case of Down syndrome with unusual chromosome translocatio n. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11; q21), + der (5) t(5;21). The mother's karyotype was 46, XX, der (5) t( 5,21) (q11;q21). The chromosome imbalance resulted from 3:1 meiotic se gregation.