High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.
Clin Genet
; 66(1): 30-8, 2004 Jul.
Article
em En
| MEDLINE
| ID: mdl-15200505
ABSTRACT
About 5-10% of patients with dysmorphisms, severe mental retardation, and normal standard karyotype are affected by subtelomeric chromosome rearrangements. Sequence homology between different chromosomes and variability between homologs make these regions more susceptible to breakage and reunion. We analyzed the telomeric regions of 92 of these patients, selected with strict clinical criteria. Fifteen individuals (16.3%) had subtelomeric rearrangements. Nine had a unique anomaly, which in one case had been inherited from a balanced parent. Six subjects had double segmental imbalances, including three de novo imbalances. This study provides further evidence for the plasticity of subtelomeric regions, which often results in cryptic rearrangements, and recommends stringent criteria for selecting patient candidates to telomere analysis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aberrações Cromossômicas
/
Telômero
/
Fácies
/
Deficiência Intelectual
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Itália