RESUMO
A patient with a 15 partial trisomy and a 4 target chromosome in 100% of metaphases is presented. Phenotypic manifestations not previously described were observed such as macrocephally, long face, low implantation of ears, narrow forehead, epicanthal fold, copious eyebrows and synophrys, short nasolabial distance, convergent strabismus, delayed bucal eruption, long neck, hypertrophy of thenar and hypothenar bulging and articular hypermobility. The eyeground was degeneratively myopic. This case makes more extensive the variety of clinical manifestations of this disease.
Assuntos
Cromossomos Humanos Par 15 , Cromossomos Humanos Par 4 , Fenótipo , Trissomia , Criança , Feminino , Humanos , Translocação GenéticaRESUMO
A patient with a 15 partial trisomy and a 4 target chromosome in 100
of metaphases is presented. Phenotypic manifestations not previously described were observed such as macrocephally, long face, low implantation of ears, narrow forehead, epicanthal fold, copious eyebrows and synophrys, short nasolabial distance, convergent strabismus, delayed bucal eruption, long neck, hypertrophy of thenar and hypothenar bulging and articular hypermobility. The eyeground was degeneratively myopic. This case makes more extensive the variety of clinical manifestations of this disease.
RESUMO
Se realizó un estudio de 124 pacientes institucionalizados con retraso mental severo y profundo para conocer la frecuencia de aberraciones cromosómicas y variantes polimórficas asociadas a esta enfermedad. Se detectó que el 20,9 por ciento tenían aberraciones de tipo númerica correspondiendo la mayoría a trisomías 21. Las aberraciones estructurales correspondieron al Síndrome Frágil X. Se puso de relieve la alta frecuencia de asociación de retraso mental con variantes estructurales. Se concluye que el cariotipo debe ser realizado a todo paciente con retraso mental severo y profundo como medio para profundizar nuestros conocimientos sobre la etiologías de esa enfermedad
