RESUMEN
A case of congenital glaucoma with developmental delay and several dysmorphic features showing 22p+ chromosomal variant is reported.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 22/genética , Anomalías Craneofaciales/genética , Glaucoma/congénito , Humanos , Lactante , Presión Intraocular , Cariotipificación , Masculino , Región Organizadora del Nucléolo/patologíaRESUMEN
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is seen at a higher frequency in many national and ethnic groups in areas of current or former malaria endemicity. A screening programme undertaken to evaluate the gene frequencies for this deficiency in the highly inbred South Indian population of Karnataka revealed that of the 5140 neonates screened, 7.8% were G6PD deficient with no correlation between the reported level of inbreeding and enzyme deficiency. An interesting finding was the equal number of male (198) and female (207) individuals, with G6PD activity of less than 3 IU. The possible implications of this finding with regard to the expression of G6PD gene is discussed.