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Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia
Ist Teil von
Malaysian journal of pathology, 2022-08, Vol.44 (2), p.235-244
Ort / Verlag
Kuala Lumpur: College of Pathologists, Academy of Medicine of Malaysia
Erscheinungsjahr
2022
Link zum Volltext
Quelle
Free E-Journal (出版社公開部分のみ）
Beschreibungen/Notizen
Keywords: cytogenetic analysis, Down syndrome, Edwards syndrome, Patau syndrome, live born autosomal trisomies INTRODUCTION In humans, chromosomal abnormalities involving the number or structure of chromosomes are responsible for miscarriages, developmental delay, disorders of sexual development, mental retardation, and congenital malformations. The medical records of all included cases were reviewed for clinical features, parental ages, test indication and the results of karyotype patterns. Cytogenetic analyses of the study subjects were performed using standard procedures.5 In short, peripheral blood samples (0.5 ml - 1.0 ml) collected in heparinised tubes were cultured at 37°C in 5% CO2 incubator for 72 hours to obtain metaphases by stimulation of blood lymphocytes with phytohemagglutinin (PHA). The cytogenetic analysis confirmed a diagnosis of DS in 857 out of 1034 (82.8%) trisomy confirmed cases and 83.2% of the total 1030 suspected DS cases (Table 1). [...]DS accounted for the highest number of trisomies (82.8%) among the three live born trisomes.