Karyotype Analyses of Down Syndrome Children in East Priangan Indonesia

Meirina Gartika；Abigail Chang Tian Ai；Eka Chemiawan；Willyanti Soewondo

Down Syndrome ； karyotype ； Non-disjunction ； Translocation ； Mosaic

Journal of International Dental and Medical Research

11卷2期（2018 / 07 / 01）

687 - 693

英文

Down Syndrome (DS), also known as Trisomy 21 is one of the most common genetic disorders in which there is an extra copy of chromosome 21. DS occurs in about 1 to 650-1000 live births and it can be caused by three types of chromosomal abnormalities: Non-disjunction, Translocation and Mosaicism. The aim of this study is to determine the percentage for each type of DS among patients who came to Rumah Sakit Gigi dan Mulut Fakultas Kedokteran Gigi Universitas Padjadjaran (RSGM FKG UNPAD). This was a descriptive cross-sectional study. The sample for this research was 75 individuals suspected of DS who have given their blood for karyotype testing, however 5 samples were later excluded as the karyotype results either showed other chromosomal abbreviation than that of trisomy 21 or were normal or the blood sample failed to be cultured. The results of this study showed that the valid total of 70 samples, 67 samples (95.71%) were Non-disjunction DS and 3 samples (4.29%) with Mosaicism. The overall male:female ratio of DS samples was found to be 1.92:1. In conclusion, Non-disjunction was diagnosed in the majority of the samples similar with other cytogenetic studies on DS worldwide. However, Translocation DS was not reported and the percentage of Mosaic DS was slightly higher than other researches.