An Evaluation Cytogenetic Result of Pediatric Patients’ Peripheric Blood within the Years 2004-2006

Abstract

Faculty, İnönü University, in terms of major chromosomal aberrations, with varied clinical prediagnoses of phenotypic dysmorphogenesis retrospectively. Methods: For this purpose, chromosomes of 204 patients were obtained by peripheral lymphocyte tissue culture technique and karyotypes were investigated using the G-band method. Besides the clinical presentation features, associated anomalies and maternal characteristics were noted. Results: Chromosomal anomalies were detected in a total of 57 (27,9%) children. These were as follows, trisomy 21 (21,57%), Turner syndrome (2.94%), trisomy 13 (1.96%), trisomy 18 (0.49%), mosaic-trisomy 8 (0,49%) and inv (9)(p11; q13) (0.49%). Mongoloid slant, epicanthal folds, hypertelorism, simian crease, flat nasal bridge, and microcephaly were observed in >60% of Down syndrome cases. Congenital heart disease was documented in 13 (32.5%) cases. Increasing maternal age was found 37 (84.1%) cases with trisomy 21. Conclusions: The findngs obtained from the results in the study have indicated that, among etiologic factors leading to congenital malformations, chromosomal abnormalities play a significant role. To evaluate congenital anomalies with chromosomal aberrations, the teamwork of geneticists and pediatricians increases the probability of determining the etiological diagnosis properly. This is essential to decrease the parents' reproductive risk, thus contributing to primary prevention of congenital anomalies. Key words: Major chromosomal aberrations, Cytogenetics, Postnatal

Keywords

• Major chromosomal aberrations, Cytogenetics, Postnatal

2004-2006 Dönemi Pediatrik Hastaların Periferik Kan Sitogenetik Sonuçlarının Değerlendirilmesi

Öz

Amaç: Bu çalışmada, İnönü Üniversitesi Tıp Fakültesi Genetik Tanı Laboratuvarı'na, fenotipik dismorfogenezisin değişik klinik ön tanıları ile başvurmuş olan pediatri hastalarının, major kromozomal anomaliler yönünden retrospektif değerlendirilmesi yapıldı. Gereç ve Yöntem: Bu amaçla 204 hastanın kromozomları periferik lenfosit doku kültürü tekniği ile elde edildi ve karyotipler G-bantlama metoduyla boyanarak incelendi. Olguların klinik özellikleri, ilişkili anomaliler ve anneye ait özelliklerine ulaşıldı. Bulgular: Toplam 57 çocukta (%27,9) kromozomal anomali saptandı. Bunlar sırası ile, trizomi 21 (%21,57), Turner sendromu (%2.94), trizomi 13 (%1.96), trizomi 18 (%0.49), mozaik-trizomi 8 (%0,49) ve inv(9)(p11;q13) (%0.49) olarak belirlendi. Down sendromlu olguların %60'ından fazlasında mongoloid yüz, epikantal kıvrım, hipertelorizm, simian çizgisi, basık burun ve mikrosefali vardı. Doğumsal kalp hastalığı 13 vakada (%32,5) bulundu. Down sendromlu 37 hastada (%84,1) ileri anne yaşı saptandı. Sonuç: Araştırma sonunda elde edilen bulgular, konjenital malformasyonlara neden olan etyolojik faktörler içinde kromozomal anomalilerin önemli rol oynadığını ortaya koydu. Kromozom aberasyonlu konjenital anomalileri değerlendirirken genetikçi ve pediatristlerin ekip çalışması etyolojik tanının doğru saptanma olasılığını artırır. Bu da ebeveynlerin tekrarlama riskini azaltması dolayısıyla konjenital anomalilerin primer olarak önlenmesi bakımından önemlidir. Anahtar kelimeler: Major kromozom aberasyonları, Sitogenetik, Postnatal

Anahtar Kelimeler

• Major kromozom aberasyonları, Sitogenetik, Postnatal

References

1. Therman E, Susman M. Human Chromosomes. Structure, Behavior and Effects. 3rd ed, New York-Heidelberg:Springer, 1993.
2. Jacobs PA, Hassold TJ. The origin numerical chromosome abnormalities. Adv. Genet. 1995, 33:101-133.
3. Başaran N, Tıbbi Genetik (Ders Kitabı) 7. Baskı, Güneş&Nobel Tıp Kitabevi; 1999;161-18.
4. Baumann C, Heron D. Dysmorphic syndromes at birth: what to do? Arch Pediatr 2001, 8(9):1000-5.
5. Rimoin DL, Connor JM, Pyeritz RE. Principles and practice of medical genetics, 3rd ed. New York: Churchill Livingstone Inc; 1997, 1114-6.
6. Nagaishi M, Yamamoto T, Iinuma K, Shimomura K, Berend SA, Knops J. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan, J Obstet Gynaecol Res 2004, 30(3):237-41.
7. Menasha J, Levy B, Hirschhorn K, Kadron NB. Incidence and spectrum of chromosome abnormelities in spontaneous abortions:new insights from a 12-year study, Genet Med. 2005,7(4): 251-63.
8. Cernach MC, Patricio FR, Galera MF, Moron AF, Brunoni D. Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies, Pediatr Dev Pathol 2004, 7(4): 335-41.

9. Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18, Pediatrics 2003, 111(4Pt1):777-84.
10. Mokhtar MM, Abd el-Aziz AM, Nazmy NA, Mahrous HS. Cytogenetic profile of Down Syndrome in Alexandria, Egypt, East Mediterr Health J , 2003, 9(1-2): 37-44.
11. Ahmed I, Ghafoor T, Samore NA, Chattha MN. Down syndrome: clinical and cytogenetic analysis, J Coll Physicians Surg Pak 2005, 15(7): 426-9.
12. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J. Androl 2003:24: 41-8.
13. Massa G, Verlinde F, De Schepper J, et al. Trends in age at diagnosis of Turner syndrome, Arch Dis Child 2005, 90(3): 267-8.
14. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans, Annu Rev Genet 2000, 34: 297-329.
15. Şaylı BS. Medikal Sitogenetik. Yargıçoğlu, Ankara, 168-71, 1986.
16. Lüleci G, Başaran S. Sitogenetik uygulama yöntemleri, Meteksan, Ankara, 1990.
17. Forrester MB, Merz RD. Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999, Am J.Med Genet A. 2004, 128(4): 383-8.
18. Neilsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in arhus. Hum Genet 1991, 87: 81-3.
19. Badovinac AR, Tomjaanovic AB, Stracevic N. Chromosome studies in patients with defective reproductive success, AJRI 2000, 44: 279-83.
20. Mathias B, Forrester and Ruth D. Merz, Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999, Am.J. Med. Genet., 2004, 128A: 383-388.
21. Mathias B, Forrester and Ruth D. Merz, Maternal age-specific down syndrome rates by maternal race/ethnicity, Hawaii, 1986-2000., Birth Defects Research (Part A), 2003, 625-629.