Anomalías cromosómicas subteloméricas en pacientes con retraso mental criptogénico
- Verdú Pérez, Alfonso
- García Murillo, P.L.
- García Campos, O.
- López Grondona, F.
- Arriola Pereda, Gema
- Alcaraz Rousselet, María Ángeles
- Vicente Lago, Y.
- Suela, J.
ISSN: 1695-4033, 1696-4608
Datum der Publikation: 2011
Ausgabe: 75
Nummer: 6
Seiten: 365-371
Art: Artikel
Andere Publikationen in: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )
Zusammenfassung
Introduction Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause. Patients and methods A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array). Results A subtelomeric aberration was identified in 9 patients. Eight were «de novo»; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy. Conclusions Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration.