Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The results of 4,064 patients referred for cytogenetic analysis at Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia between 2008 and 2019 were reviewed. We retrospectively investigated the karyotype patterns, clinical features and parental ages of the three common live-born autosomal trisomies such as trisomy 13, trisomy 18 and trisomy 21. The relative frequency of cases with the total sample received and cultured was calculated in each group and compared with those reported elsewhere. Between 2008 and 2019, a total of 1034 live-born trisomic cases which accounted for 25.4% of the 4064 total referred cases and 73.7% of 1403 suspected trisomy cases, were identified, with age ranging from newborns to 57 years. Down syndrome was the commonest aneuploidy (857 cases; 21.1%) followed by Edwards syndrome (133 cases; 3.3%) and Patau syndrome (44 cases; 1.1%). The number of diagnosed cases for each of the trisomies was fairly stable from year to year. About two-thirds of both maternal and paternal ages were ≥ 35 years. This is the first cytogenetic report on the common live-born autosomal trisomies in the North-Eastern region of Malaysia. The prevalence of trisomies 21 was found to be higher compared to an earlier study in the North-Western region of Malaysia, wherein also, advanced maternal age was a significant risk factor.

Genetic polymorphism of CYP2D6 in Chinese subjects in Malaysia.

BACKGROUND: Although Malaysian Chinese share an origin with the mainland Chinese, their evolution has been influenced by intermarriages. With a gene such as CYP2D6, which is highly polymorphic, it is expected that the Malaysian Chinese would exhibit a polymorphism profile different from those of the Chinese populations in other geographical locations. OBJECTIVE: To study the genotype distribution of CYP2D6 among the Chinese people in Malaysia. METHOD: We obtained DNA from 236 Chinese individuals in Malaysia and used PCR-based methods to identify any common CYP2D6 alleles. RESULTS: A total of 236 subjects were enrolled and were successfully genotyped. Malaysian Chinese were relatively heterogeneous in terms of their CYP2D6 genotypes with nine genotypes recorded. CYP2D6*4, *5, *9, *10 and *17 were detected with the most common genotype being *1/*10. No subject had genotypes that predicted poor metabolic activity. However, 40% showed genotypes (e.g. CYP2D6*10/*10, *17, *4 and *9 and *9/*9) that predicted an intermediate metabolizer phenotype. Another subject carried the defective CYP2D6*17 allele and six carried the defective CYP2D6*9 allele. Both these alleles have not been reported in other earlier Chinese studies. CONCLUSION: This study revealed that, in terms of CYP2D6 polymorphism, Malaysian Chinese were a heterogeneous group of people. Although sharing some similarities with other Orientals, they also seemed to have some notable differences. The alleles CYP2D6*4, *5, *9, *10 and *17 were all detected. CYP2D6*3 was however absent.