สถาบันวิจัยวิทยาศาสตร์สาธารณสุข

National Institute of Health of Thailand

Preliminary report on detection of chromosome 21, X and Y in uncultured amniocytes by using fluorescence in situ hybridization (FISH)

Authors : Somchai Sangkitporn*, Budsaba Rerkamnuaychock**, Sasakorn Sarasophona**, Ratchanee Parinayok**, Prasopchock Noamrot**, Aksara Apilugsanachit**, Siripakorn Sangkitporn*, Sauwakon Ajjimakorn***

Affiliations:        *National Institute of Health, Department of Medical Sciences,

Tiwanond Road, Nonthaburi 11000

**Department of Pathology, Faculty of Medicine Ramathibodi

 Hospital, Rama VI Road , Bangkok 10400

***Department of Obstetric and Gynaecology, Faculty of Medicine,

Ramathibodi Hospital, Rama VI  Road, Bangkok 10400

           

Source:           Bulletin of Department of Medical Sciences 2000; 42(1): 20-27

           

Language:         Thai with English abstract

 

Abstract:

 

Conventional cytogenetic analysis of amniocytes is limited by the significant investment of time and labor required to generate sufficiently deviding cells so that chromosome can be analyzed during metaphase. Fluorescence in situ hybridization (FISH) based on interphase analysis with specific DNA probes can provide a rapid and relatively reliable detection of chromosome aneuploidy. In the present report, we investigated the detection of chromosomes 21, X and Y from uncultured amniocytes detected in 20 and 18 amniocyte samples, whereas, trisomy 21 was oberved in 1 case. The karyotype of these 39 cases was 46, XX (17 cases), 46 XY,(20 cases), 47, XX, +21(1 case), and 47, XX, +18(1 case). The other case with 47, X Y, + marker karyotype showed mosaicism of disomic and trisomy 21 for 64% and 36%, respectively. For conclusion, FISH can be used  for urgent chromosome 21 and sex chromosome screening test, followed by a standard chromosome analysis to detect other anomalies.