Chromosomal analysis from blood: 18 year experience of Songklanagarind Hospital
DOI:
https://doi.org/10.14456/tjg.2008.17Keywords:
chromosome, blood, lymphocyteAbstract
Metaphase chromosome analysis from cultured blood lymphocytes were investigated in 5,866 tests at Songklanagarind Hospital from 1990 through 2007 (18 years). Elaboration of G-bands by trypsin using Giemsa (GTG) was routinely employed with other banding techniques if required. High resolution chromosome banding was performed in suspected cases of structural chromosome abnormality. Successful studies were obtained in 5,665 tests (96.4 %) and 1,680 tests (28.7 %) were found to have chromosomal abnormalities. The failure rate was 3.4 % (201 tests). Fifty duplicated tests were discarded of the 1680 abnormal results, leaving 1,630 cases with abnormal chromosomes. Of 1,630 cases, Down, Edwards, and Patau syndromes were found in 933 (57.2 %), 87 (5.3 %) and 80 (4.9 %) cases, respectively. There were 215 cases with sex chromosome abnormalities (13.2 %), including 188 cases with Turner syndrome, 18 cases with Klinefelter syndrome, 6 cases with XXX syndrome and 3 cases with XYY syndrome. Androgen insensitivity syndrome (female with 46,XY) was found in 23 cases, and structural chromosome abnormalities were found in 222 cases (13.6 %). The remainder (70 cases/4.3 %) was composed of microdeletion, marker chromosome, fragile X syndrome and rare trisomy. To the best of our knowledge, this study is the largest group of chromosome analysis results reported from Thailand. These findings can be available to provide the database for genetic counseling.
References
ราชบัณฑิตยสถาน. 2547. ศัพท์แพทยศาสตร์ อังกฤษ-ไทย ไทย-อังกฤษ ฉบับราชบัณฑิตยสถาน. พิมพ์ครั้งที่ 3 (แก้ไขเพิ่มเติม). อรุณการพิมพ์ กรุงเทพฯ.
สมาคมพันธุศาสตร์แห่งประเทศไทย. 2548. ปทานุกรมพันธุศาสตร์. เท็กซ์ แอน์ เจอร์นัล พับลิเคชั่น กรุงเทพฯ.
สมแข ศิลปาจารย์ วิจารณ์ พานิช และ ศุภฤกษ์ รุ่งเจิดฟ้า. 2526. ผลการวิเคราะห์โครโมโซมในผู้ป่วย 120 ราย สงขลานครินทร์เวชสาร 2: 273-277.
สมชัย บวรกิตติ สาโรจน์ วรรณพฤกษ์ นิพนธ์ พวงวรินทร์ เรือน สมณะ และคณะ 2537. พจนานุกรม
กลุ่มอาการโรค ฉบับศาสตราจารย์ อวย เกตุสิงห์ เรือนแก้วการพิมพ์ กรุงเทพฯ.
Bloom, S. and Goodpasture, C. 1976. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet 34: 199-206.
Barch, M.J., Knutsen, T. and Spurbeck J.L. (eds.) 1997. The AGT Cytogenetics Laboratory Manual. 3rd ed. Raven Press, New York.
Caspersson, T., Zech, L. and Johansson, C. 1970. Analysis of human metaphase chromosome set by aid of DNA-banding fluorescent agents. Exptl Cell Res 62: 490-492.
Charalsawasdi, C., Jinorose, U., Jaruratanasirikul, S., Limprasert, P. 2004. Two case reports of chromosomal abnormalities using fluorescence in situ hybridization (FISH). Songkla Med J 22: 61-66.
Duarte, A.C., Cunha, E., Roth, J.M., Ferreira, F.L.S., Garcias, G.L. and Martino-Roth, M.G. 2004. Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res 3: 303-308.
Fernández, R., Méndez, J. and Pásaro, E. 1996. Turner syndrome: a study of chromosomal mosaicism. Hum Genet 98: 29-35.
Gardner, R.J.M. and Sutherland, G.R. 2004. Chromosome Abnormalities and Genetic Counseling. 3rd ed. Oxford University Press, New York.
Gottlieb, B., Beitel, L.K. and Trifiro, M.A. Last updated: May 24, 2007. Androgen Insensitivity Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2008. Available at http://www.genetests.org. Accessed (July 9, 2008).
Goud, M.T., Al-Harassi, S.M., Al-Khalili, S.A., Al-Salmani, K.K., Al-Busaidy, S.M. and Rajab, A. 2005. Incidence of chromosome abnormalities in the Sultanate of Oman. Saudi Med J 26: 1951-1957.
Grouchy, J.D. and Turleau, C. 1984. Clinical Atlas of Human Chromosomes. 2nd ed. Wiley, New York.
Hall, J.G. and Gilchrist, D.M. 1990. Turner syndrome and its variants. Pediatr Clin North Am 37: 1421-1440.
Jacky, P.B. 1996. Cytogenetics. In: R.J. Hagerman and A. Cronister (eds.) Fragile X Syndrome: Diagnosis, Treatment, and Research. 2nd ed. John Hopkins University Press, Baltimore. pp. 114-164.
Jaruratanasirikul, S. and Jinorose, U. 1994. An infant with double trisomy (48,XXX,+18). Am J Med Genet 15: 207-210.
Jaruratanasirikul, S. and Jinorose, U. 1995. An infant with Down-Turner double aneuploidy: a case report and literature review. J Med Assoc Thai 78: 108-112.
Jones, K.L. 1997. Smith’s Recognizable Patterns of Human Malformation. 5th ed. W.B. Saunders, Philadelphia.
Kaiser-Rogers, K. and Rao, K. 1999. Structural chromosome rearrangements. In: S.L. Gersen and M.B. Keagle (eds.) The Principles of Clinical Cytogenetics. Human Press, New Jersey. pp. 191-228.
Kim, S.S., Jung, S.C., Kim, H.J., Moon, H.R. and Lee, J.S. 1999. Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. J Korean Med Sci 14: 373-376.
Limprasert, P., Pougpech, S., Panich, V., Jinorose, U. and Chanvitan, P. 1991. A rare case of mosaic Down's syndrome 46, XX/46,XX,-21,+t(21q:21q). Songkla Med J 9: 369-378.
Limprasert, P., Ruangdaraganon, N., Sura, T., Vasiknanote, P. and Jinorose, U. 1999. Molecular screening for fragile X syndrome in Thailand. Southeast Asian J Trop Med Public Health 30 (Suppl 2): 114-118.
Limprasert, P., Ruangdaraganon, N., Vasiknanonte, P., Sura, T. and Sriplung, H. 2000. A clinical checklist for fragile X syndrome: screening of Thai boys with developmental delay of unknown cause. J Med Assoc Thai 83: 1260-1266.
Mekanandha, V., Thamrongyouth, U., Dalan, V. and Banpotkasem, S. 1979. Chromosome aberrations among a selected group of pediatric patients. J Med Assoc Thai 62: 235-240.
Mehes, K. and Bajnoczky, K. 1981. Incidence of major chromosomal abnormalities. Clin Genet 19: 75-76.
Melaragno, M.I., Fakih, L.M., Cernach, M.C. and Maccagnan, P. 1993. Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature. Am J Med Genet 47: 357-359.
Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battipps, D.M. and Hungerford, D.A. 1960. Chromosome preparations of leukocytes cultured from human peripheral blood. Exptl Cell Res 20: 613-616.
Naguib, K.K., Al-Awadi, S.A., Moussa, M.A., Bastaki, L., Gouda, S., Redha, M.A., Mustafa, F., Tayel, S.M., Abulhassan, S.A. and Murthy, D.S.1999. Trisomy 18 in Kuwait. Int J Epidemiol 28: 711-716.
Panich, V. and Jinorose U. 1991. Chromosome analysis of 894 patients. J Med Assoc Thai 73: 136-144.
Seabright, M. 1971. A rapid banding technique for human chromosomes. Lancet 2: 971-972.
Rujirabanjerd, S., Sripo, T., Tongsippunyoo, K., Charalsawadi, C. and Limprasert, P. 2005. Molecular analysis of uniparental disomy in a Thai patient with Prader-Willi syndrome. Songkla Med J 23(Suppl 2): 253-259.
Rujirabanjerd, S., Suwannarat, W., Sripo, T., Dissaneevate, P., Permsirivanich, W. and Limprasert, P. 2007. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet A 143: 271-276.
Shaffer, L.G. and Tommerup, N. 2005. An International System for Human Cytogenetic Nomenclature (2005). Collaboration with Cytogenetic and Genome Research, New York.
Sumner, A.T. 1972. A simple technique for demonstrating centromeric heterochromatin. Exptl Cell Res 75: 304-306.
Tengtrisorn, S. and Maipang, M. 1994. Retinoblastoma in Songklanagarind Hospital. Songkla Med J 12: 24-32.
Tjio, H.J. and Levan, A. 1956. The chromosome number of man. Hereditas 42: 1-6.
Vachvanichsanong, P., Jinorose, U. and Sangnuachua, P. 1991. Trisomy 14 mosaicism in a 5-year-old boy. Am J Med Genet 40: 80-83.
Verma, R. S. and Dosik, H. 1980. Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases. Clin Genet 17: 305-308.
West, B.R. and Allen, E.F. 1998. Another previously described 21 monosomy case turns out to be an unbalanced translocation. Am J Med Genet 75: 438.
Yunis, J.J.1976. High resolution of human chromosomes. Science 191: 1268-1270.
