Asunto(s)
Alopecia/diagnóstico , Anodoncia/diagnóstico , Trastornos del Crecimiento/diagnóstico , Pérdida Auditiva/diagnóstico , Atrofias Ópticas Hereditarias/diagnóstico , Enfermedades Vestibulares/diagnóstico , Alopecia/complicaciones , Anodoncia/complicaciones , Niño , Femenino , Trastornos del Crecimiento/complicaciones , Pérdida Auditiva/complicaciones , Humanos , Recién Nacido , Atrofias Ópticas Hereditarias/complicaciones , Fenotipo , Enfermedades Vestibulares/complicacionesRESUMEN
We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 â qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome.
Asunto(s)
Anomalías Múltiples/genética , Duplicación Cromosómica , Fenotipo , Trisomía/genética , Cariotipo Anormal , Anomalías Múltiples/patología , Niño , Preescolar , Pintura Cromosómica , Cromosomas Humanos Par 8/genética , Sondas de ADN , Humanos , Lactante , MasculinoRESUMEN
Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1-3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of Italy, who have a dihydropteridine reductase deficiency, caused by the same mutation (p.L14P) also found in the nearby region of Sicily. We report the evolution of clinical and biochemical data during the treatment of these patients where we used prolactin serum determination to adapt the specific therapy. This report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring.