A case report of Monosomy 21

Document Type: Case Report




monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Kerman university) with the diagnosis of pneumonia.in physical examinations he was under weight,and had short stature,widening of the nose bridge,hyperthelorism,mongloid eyes,large and abnormal ears,mental retardation.the diagnosis of monosomy 21 was suspected which was confirmed by karyotyping,as mosaic form.