PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE

Authors
CONCOLINO D CINTI R FERRARO L MORICCA MT STRISCIUGLIO P
Citation
D. Concolino et al., PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE, Journal of Medical Genetics, 35(1), 1998, pp. 75-77
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
35
Issue
1
Year of publication
1998
Pages
75 - 77
Database
ISI
SICI code
0022-2593(1998)35:1<75:PT1-AN>2.0.ZU;2-X
Abstract
We report a female patient with a 46,XX,der(8)t(1;8) (q42.1;p23.3) kar yotype who had a mild phenotype characterised by a few subtle dysmorph ic features and mild developmental retardation, probably resulting fro m trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.