Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
Engelen
J J
JJ
Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
De Die-Smulders
C E
CE
Vos
P T
PT
Meers
L E
LE
Albrechts
J C
JC
Hamers
A J
AJ
D000328:Adult; D002885:Chromosomes, Human, Pair 16; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014314:Trisomy