AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.
RUBINSTEIN – TAYBI IN SYNDROME A PERUVIAN PATIENT WITH MILD MENTAL RETARDATION: A CASE REPORT / SÍNDROME DE RUBINSTEIN - TAYBI EM UM PACIENTE PERUANO COM LEVE RETARDO MENTAL: UM RELATO DE CASO
