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- W2008664995 abstract "Summary: A boy with infantile spasms was found to have a balanced de novo translocation, 6q;14q. The karyotype was 46, XY, t(6;14)(q27;q13.3). He had mental retardation and microcephaly but no dysmorphic features. Whether or not there is a relationship between the translocation in our patient and his infantile spasms is unknown. If there is a connection, a gene or genes on chromosome 14 may be implicated in the seizure disorders that are common in patients with ring chromosome 14 syndrome or proximal partial trisomy 14 syndrome. RÉSUMÉ Chez un enfant ayant des spasmes infantiles on a mis en évidence une translocation équilibrée de novo 6q;14q. Le caryotype était 46, XY, t(6;14)(q27;q13.3). Il avait un retard mental et une microcéphalie mais n'avait pas de dysmorphies. Nous ne pouvons pas savoir s'il y a une relation entre la translocation et les spasmes infantiles chez notre patient. S'il y en a une, c'est un gène (ou des gènes) sur le chromosome 14 qui peut ètre impliqué dans ce type de crises, habituel chez des patients ayant un syndrome du chromosome 14 en anneau ou un syndrome de trisomie 14 proximale. RESUMEN Se ha encontrado que un niño con espasmos infantiles tenía una translocación equilíbrada de “novo,” 6q;14q. El cariotipo fué 46, XY, t(6;14)(q27;q13.3). El muchacho tenía retraso mental y microcefalia pero no se observaron dismorfias. Se desconoce si existe una relación entre la translocación y los espasmos infantiles en este paciente. Si existe una conexión pueden estar implicados genes o un gene en el cromosoma 14 en la producción de trastornos convulsivos que son comunes en pacientes con un síndrome de cromosoma 14, en anillo, o en el síndrome de trisomia 14 parcial proximal. ZUSAMMENFASSUNG Bei einem Jungen mit BNS-Anfälle wurde eine balancierte neu aufgetretene Translokation 6q;14q gefunden. Der Karyotyp war 46, XY, t(6;14)(q27;q13.3). Der Junge war retardiert mit einem Mikrocephalus, jedoch ohne Dysmorphien. Ob eine Beziehung zwischen der Translokation und den Anfällen besteht ist unbekannt. Wenn eine Beziehung besteht, dürften ein Gen oder Gene des Chromosoms 14 bei dem Anfallsleiden involviert sein, die auch bei Patienten mit Ringchromosom 14 oder einem proximalen partiellen Trisomie 14 Syndrom auftreten." @default.
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- W2008664995 date "1985-08-01" @default.
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- W2008664995 title "de novo Reciprocal Translocation t(6;14)(q27;q13.3) in a Child with Infantile Spasms" @default.
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- W2008664995 doi "https://doi.org/10.1111/j.1528-1157.1985.tb05655.x" @default.
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