Turkiye Klinikleri Journal of Pediatrics

.: ORIGINAL RESEARCH
Mozaik Trizomi 8 Sendromu Tanılı Beş Olgunun Klinik Özelliklerinin Değerlendirilmesi: Olgu Serisi
Clinical Evaluation of the Five Patients with Mosaic Trisomy 8 Syndrome: Case Series
Tuğba DAŞARa , Merve SOĞUKPINARa, Pelin Özlem ŞİMŞEK KİPERa , Gülen Eda UTİNEa , Koray BODUROĞLUa
aHacettepe Üniversitesi Tıp Fakültesi, Çocuk Genetik BD, Ankara, Türkiye
Turkiye Klinikleri J Pediatr. 2023;32(2):91-5
doi: 10.5336/pediatr.2023-95733
Article Language: TR
Full Text
ÖZET
 Amaç: Bu çalışmada, mozaik trizomi 8 sendromu tanısıyla takip edilen 5 hastanın klinik özellikleri ve eşlik eden yapısal malformasyonları değerlendirilerek bu sendromun farkındalığının artırılması amaçlanmıştır. Gereç ve Yöntemler: 2000-2022 yılları arasında çocuk genetik bölümüne başvuran ve periferik kan örneğinden yapılan karyotip analizleri sonucunda trizomi 8 mozaisizmi saptanan hastalar çalışmaya dâhil edilmiştir. Bulgular: Çalışmaya dâhil edilen toplam 5 hastanın 3'ü kız, 2'si erkek cinsiyette idi. Başvuru anındaki yaş aralığı 11 ay ile 9 yaş arasında değişmekte idi. Prenatal dönemde ikili test yüksekliği, korpus kallozum agenezisi, hidrosefali veya üriner sistem anomalisi bulgularından en az biri saptanan 3 hastanın ailesine fetal karyotip analizi yapılması önerildi, ancak bir aile örnekleme yapılmasını kabul etti. Amniyon örneğinden kromozom analizi yapılan hastanın, kromozom analizinin normal sonuçlandığı görüldü. Postnatal değerlendirmede, hastaların 3'ünde santral sinir sistemi, 4'ünde kardiyak anomali, 3'ünde ürogenital anomali ve hepsinde en az bir kasiskelet sistemi anomalisi saptandı. Sendromun tipik bulgularından olan derin palmar-plantar çizgilenme 4 hastada, kamptodaktili 4 hastada, strabismus ise 1 hastada mevcut idi. Tüm hastaların yapılan gelişim testleri anormal olarak sonuçlanmıştı. Sonuç: Mozaik trizomi 8 sendromu, klinik olarak oldukça değişken olmakla birlikte; gelişme geriliği, korpus kallozum agenezisi, kamptodaktili ve derin palmarplantar çizgilenme bulgularının varlığında ayırıcı tanılar arasında yer almalıdır.

Anahtar Kelimeler: Kromozom hastalıkları; trizomi 8; mozaisizm
ABSTRACT
 Objective: In this report, we aim to increase the awareness of mosaic trisomy 8 syndrome, by presenting clinical features of 5 patients and accompanying structural malformations. Material and Methods: Patients who applied to pediatric genetic department between 2000-2022, and were found to have trisomy 8 mosaicism as a result of karyotype analysis performed from peripheral blood samples were included in the study. Results: Of all 5 patients, 2 were male, 3 were female. The age at the admission ranged from 11 months to 9 years. Fetal karyotype analysis was recommended to the families of 3 patients who were found to have at least one of the findings of abnormal fetal screening test, corpus callosum agenesis, hydrocephaly or urinary sistem abnormality in the prenatal period, but one family agreed to sampling. Karyotype analysis from amnion sample was performed to the patient and resulted in normal. In the postnatal evaluation, 3 patients had central nervous system abnormality, 4 patients had heart defect and 3 patients had urogenital system abnormality and all patients had at least one musculoskeletal system abnormality. Deep palmar-plantar creases, which is one of the hallmark of the syndrome was present in 4 patients, camptodactyly and strabismus were detected in 4 and 1 patients, respectively. Developmental tests of all patients were abnormal. Conclusion: Mosaic trisomy 8 syndrome is a clinically heterogenous syndrome and it should be considered in the differential diagnosis in the presence of the developmental delay, corpus callosum agenesis, camptodactyly and deep palmar-plantar creases.

Keywords: Chromosomal disorders; trisomy 8; mosaicism
REFERENCES:
  1. Wiśniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet. 2002;43(1):115-8. [PubMed] 
  2. Settimo C, Bonanno L, Tresoldi M, Muratore R, Cucinotta F, Tripodi E, et al. Early and innovative rehabilitation in warkany syndrome 2 associated with agenesis of the corpus callosum: a case report. Children (Basel). 2022;9(5):722. [Crossref]  [PubMed]  [PMC] 
  3. Thomsen SH, Lund ICB, Fagerberg C, Bache I, Becher N, Vogel I. Trisomy 8 mosaicism in the placenta: a Danish cohort study of 37 cases and a literature review. Prenat Diagn. 2021;41(4):409-21. [Crossref]  [PubMed] 
  4. Iwatani S, Takeoka E, Mizobuchi M, Yoshimoto S, Iwaki R, Bitoh Y, et al. Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. Pediatr Int. 2014;56(6):938-9. [Crossref]  [PubMed] 
  5. Chen CP, Chen M, Pan YJ, Su YN, Chern SR, Tsai FJ, et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol. 2011;50(3):331-8. [Crossref]  [PubMed] 
  6. Udayakumar AM, Al-Kindy A. Constitutional trisomy 8 mosaicism syndrome: case report and review. J Pediatr Genet. 2013;2(4):197-201. [PubMed]  [PMC] 
  7. Hu J, Yan K, Jin P, Yang Y, Sun Y, Dong M. Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening. Mol Cytogenet. 2022;15(1):39. [Crossref]  [PubMed]  [PMC] 
  8. Schneider M, Klein-Vogler U, Tomiuk J, Schliephacke M, Leipoldt M, Enders H. Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn. 1994;14(7):651-2. [Crossref]  [PubMed] 
  9. Cassina M, Calò A, Salviati L, Alghisi A, Montaldi A, Clementi M. Prenatal detection of trisomy 8 mosaicism: pregnancy outcome and follow up of a series of 17 consecutive cases. Eur J Obstet Gynecol Reprod Biol. 2018;221:23-7. [Crossref]  [PubMed] 
  10. Hulley BJ, Hummel M, Cook LL, Boyd BK, Wenger SL. Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet A. 2003;116A(2):144-6. [Crossref]  [PubMed] 
  11. Tsai MC, Cheng HY, Su MT, Chen M, Kuo PL. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. Taiwan J Obstet Gynecol. 2014;53(4):598-601. [Crossref]  [PubMed] 
  12. Campbell S, Mavrides E, Prefumo F, Presti F, Carvalho JS. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol. 2001;17(4):341-3. [Crossref]  [PubMed] 
  13. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet. 1995;56(2):444-51. [PubMed]  [PMC] 
  14. Giraldo G, Gómez AM, Mora L, Suarez-Obando F, Moreno O. Mosaic trisomy 8 detected by fibroblasts cultured of skin. Colomb Med (Cali). 2016;47(2):100-4. [Crossref]  [PubMed]  [PMC] 
  15. Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet. 1998;6(5):432-8. [Crossref]  [PubMed] 
  16. Gtniin R, Cohen M, Levin L. Syndromes of the Head and Neck. 3rd ed. New York: Oxford University Press; 1990.
  17. Understanding Chromosome Disorders. Trisomy 8 mocaism 2012. [Cited: September 5, 2022]. Available from: [Link] 
  18. Chen H. Neonatal herpes simplex infection. Atlas of Genetic Counseling and Diagnosis. 2nd ed. New York NY: Springer; 2012. p.2051-6. [Crossref] 
  19. Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype. Clin Pediatr (Phila). 1988;27(11):557-64. [Crossref]  [PubMed] 
  20. Jones KL, Jones MC, Campo MD. Chromosomal abnormality syndromes. Smith's Recognizeble Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022. p.1-70.
  21. Ganmore I, Smooha G, Izraeli S. Constitutional aneuploidy and cancer predisposition. Hum Mol Genet. 2009;18(R1):R84-93. [Crossref]  [PubMed]  [PMC] 

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