Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells

Genetics of Down Syndrome

Ocular genetics and Down syndrome.

T hese are exciting times for pediatric ophthalmologists involved in the care of children with ocular findings resulting from genetic defects. The rapidly expanding field of molecular genetics has resulted in more accurate diagnosis and more precise prediction of inheritance. Therapeutic measures are on the horizon. In Leber's congenital amaurosis, a mutation in the gene RPE65 results in a defi...

Buccal micronucleus frequency is associated with age in Down syndrome.

Down syndrome has been linked to premature aging and genomic instability. We examined the frequency of micronucleus (MN) and binucleated cells in the oral mucosa of Down syndrome patients and healthy controls matched by age and gender, addressing the effect of age and family income. Down syndrome individuals had an increased number of MN (14.30 +/- 9.35 vs 4.03 +/- 1.71; P<0.001) and binucleate...

Cytogenetic analysis of 1284 cases of Down syndrome

Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed translocation and 32 cases (2.4%) showed mosaic pattern.among the pateints,59 had robertsonian translocation,2 had translocation between chromosome ...

Sensation Seeking and Social SkillsinChildren with Autism Disorderand Down-Syndrome

Objective: The present study was carried out to study the relationship between sensation seeking and social skills in two groups of school age patients Down-Syndrome (DS) and Autism Disorder (DS).  Methods: This is a descriptive-analytic and correlation study in which all participants were of primary school age (10 to 13 years) with Down-Syndrome and Autism Disorder of autism spectrum disord...