Phenotypes and Congenital Anomalies of Down Syndrome In Manipur

Abstract

Aims: To study physical expression (phenotype), congenital anomalies, elicit the degree of mental retardation and cytogenetic profile of Down syndrome patients in Manipur. Methods: The study was carried out in the Department of Anatomy on 50 suspected cases of Down Syndrome selected from mental homes of Manipur and Regional Institute of Medical Sciences hospital with due permission from the concerned authorities. All the cases were physically examined for their phenotype and karyotyping studies was carried out from peripheral blood. Results: 19(38%) cases under the purview of the study were males and 31(62%) cases were female. 90% had moderate mental retardation and 10% had mild mental retardation.The highest incidence of affected babies are in the maternal age group of >40 years, 19 cases (38%), while the lowest incidence 2 cases (4%) is in the age group <25 years. Chromosomal analysis showed 34(68%) free trisomy, 2 (4%) were cases of Robertsonian translocation,2(4%) balanced translocation, 2(4%) pericentric inversion and 10(20%) were of the normal karyotype. Flat facial profile, flat nasal bridge, epicanthic folds and upslant palpebral fissure were that most common phenotypic presentation in the study population. As in the studies conducted by various authors in different study populations, phenotypic presentations of Down syndrome seem to vary amongst races.