Cytogenetics Laboratory

Cytogenetics laboratory at Eijkman Institute conducts research on chromosome hereditary, chromosomal structure and abnormalities, and their roles in sex determination. Chromosome is a thread-like structure in which DNA is tightly packaged inside the nucleus. Humans have 46 chromosomes, on which 22 pairs are arranged together and called autosomal chromosome, and one pair of sex chromosome called an allosome. Chromosomal abnormalities can be inherited from one parent who carries a balanced chromosomal abnormality or occurs spontaneously during the reproductive process. Chromosome abnormalities involve numerical and structural abnormalities. Numerical abnormalities occur when there is additional copy(s) or missing of a chromosome. Down Syndrome, Edward Syndrome, Patau Syndrome and Turner Syndrome are the most commonly known syndromes caused by numerical abnormalities. Structural abnormalities occur when segment(s) of the chromosome is missing, added or incorrectly joined with another chromosome. Some of the disorders caused by structural abnormalities are Cri du Chat, Wolf Hirschhorn, Cornelia de Lange, and Beckwith Wiedemann.

Chromosomal abnormalities can be detected by conventional karyotyping using GTL-Banding technique and Fluorescence In Situ Hybridization (FISH) including interphase and metaphase FISH technique on specific genes. With the development of molecular cytogenetic techniques to detect prenatal and postnatal chromosomal abnormalities, it is expected that patients can be diagnosed more quickly and accurately, so that genetic counselling and case management can be done as early and as best as possible in accordance with their basic etiology. In addition, the obtained scientific information can be useful in understanding molecular mechanisms to get better clinical knowledge about patients with chromosomal abnormalities.

Our laboratory routinely performs prenatal and postnatal chromosome analysis using both conventional karyotyping and FISH technique. Prenatal analysis is performed on cord blood, amniotic fluid, chorionic villus, whereas peripheral blood and cord blood taken after birth are used for postnatal analysis. Chromosome analysis in miscarriage cases is also performed using product of conception (POC) samples.


  1. Marsudi, B. A., Kartapradja, H., Paramayuda, C., Batubara, J., Harahap, A. R., & Marzuki, N. S. (2018). Loss of DMRT1 gene in a Mos 45, XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. Molecular cytogenetics11, 28. doi:10.1186/s13039-018-0379-z
  2. Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Human Mutation 2018 Jan;39(1):124-139. Doi:10.1002/humu.23354. Epub 2017 Nov 2.
  3. Kartapradja,H., Marzuki,N.,Pertile,M., et al. (2015). Exceptional Complex Chromosomal Rearrangements in Three Generations. Case Reports in Genetics, vol. 2015, Article ID 321014.  
  4. Marzuki, N. S., Suciati, L. P., Paramayuda, C., Kartapradja, H. D., & Tridaja, B. (2013). Sex rearing in individuals with 46, XY disorders of sex development prior to diagnosis. International Journal of Pediatric Endocrinology2013(Suppl 1), P192. doi:10.1186/1687-9856-2013-S1-P192
  5. Marzuki, N.S., P Suciati, L.P., Idris, F.P., & Tridjaja, Bambang. (2012). Clinical presentations and molecular characterization of Indonesian children with 5 alpha-reductase deficiency. International Journal of Pediatric Endocrinology. 10.1186/1687-9856-2013-S1-P191.
  6. Paramayuda, C., Kartapradja, H., Ambarwati, D. D., Anggaratri, H. W., Suciati, L. P., Marzuki, N. S., & Harahap, A. (2012). Chromosome abnormalities in Indonesian patients with short stature. Molecular cytogenetics5(1), 35. doi:10.1186/1755-8166-5-35