Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
Am J Med Genet
; 107(4): 275-84, 2002 Feb 01.
Article
en En
| MEDLINE
| ID: mdl-11840483
ABSTRACT
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%) five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced recombinant chromosome, inherited from a parent with a pericentric inversion. In addition, 50 of the patients were screened for interstitial rearrangements with spectral karyotyping (SKY), but no aberrations were found. However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements.
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Bases de datos:
MEDLINE
Asunto principal:
Aberraciones Cromosómicas
/
Telómero
/
Hibridación Fluorescente in Situ
/
Discapacidad Intelectual
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
/
Female
/
Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
Am J Med Genet
Año:
2002
Tipo del documento:
Article
País de afiliación:
Suecia