1.
Clin Genet
; 70(2): 173-6, 2006 Aug.
Article
in English
| MEDLINE
| ID: mdl-16879203
Subject(s)
Spinocerebellar Ataxias/genetics , Adolescent , Adult , Brazil , Child , DNA Repeat Expansion , Family , Female , Humans , Male , Middle Aged , Spinocerebellar Ataxias/diagnosis , Trinucleotide Repeat Expansion
2.
Genet Couns
; 16(3): 277-82, 2005.
Article
in English
| MEDLINE
| ID: mdl-16259325
ABSTRACT
We report on a 16-month-old boy presenting with psychomotor retardation, craniofacial anomalies and severe vision deficit. Analysis of GTG-banded chromosomes showed that the patient had extra chromosomal material in the long arm of one chromosome 20. This chromosome aberration was further characterized with FISH using a chromosome 20 specific paint and band-specific probes. A partial trisomy 20q was shown to be present, the karyotype being 46, XY, dup (20) (q11.2q12). The cytogenetic and clinical findings are compared with cases previously reported in the literature.