Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature

Authors
Engelen, JJM De Die-Smulders, CEM Vos, PTH Meers, LEC Albrechts, JCM Hamers, AJH
Citation
Jjm. Engelen et al., Characterization of a partial trisomy 16q with fish - Report of a patient and review of the literature, ANN GENET, 42(2), 1999, pp. 101-104
Citations number
17
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
2
Year of publication
1999
Pages
101 - 104
Database
ISI
SICI code
0003-3995(1999)42:2<101:COAPT1>2.0.ZU;2-J
Abstract
Characterization of a partial trisomy 16 q with FISH: Report of a patient a nd literature review : We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially auto mutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46,XY,dir dup(16) (q11.2-q13). The clinical and cytogenet ical findings are compared with 3 previously reported cases with proximal d uplication 16q.