SCREENING FOR GENETIC DISORDE IN PEDIATRIC PATIENTS IN KALYUBIA PROVINCE

Abstract

This work was conducted on 52 paediatric patients who suspected to have genetic disorders. They were 28 males and 24 females attending ,1 Paediatric Clinic in Benha University Hospital.

All patients were subjected to full clinical assessment, laboratory r evaluation as complete CBC and radiologic assessment including plain x- ray and abdominal ultrasound. Karyotyping, aminogram or mucopolysaccharide assay done according to the condition of the patient.

46 karyotyped patients 22 of them are trisomies, 20 are Down's syndrome, one case is Edward's syndrome and one case patau's syndrome. With this cases found the mean age of mother is 34.6 and ranging between (20-50 years). 10 patients out of22 shows signs and symptoms of chest infection and 4 patients out of22 are anaemic, this is may be due to, bad cleaning of mother to here child, low social standered, repeated pregnancies or congenital anomalies and mostly imune- suppression state in this patients.

The rate of congenital anomalies without association of defined clinical syndrome in our study was 21 cases and only 7 cases were trisomies and had congenital anomalies.

Consanguinity was positive in 10 cases shows mental retardations. On the other hand 2 cases were examined for aminogram one of them was positive consanguinity.