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Epilepsi ve anlıksal yetiyitimi olan hastalarda moleküler karyotiplemenin klinik yararı

Year 2018, Volume: 43 Number: Supplement 1, 44 - 48, 29.12.2018
https://doi.org/10.17826/cumj.376982

Abstract

Amaç: Çalışmamızda epilepsi ve anlıksal yetiyitimlerinde ilk basamak tanı testi olarak moleküler karyotipleme yapmayı ve bu hastalıklar ile ilişkisini ortaya koymayı amaçladık.

Gereç ve Yöntem: Çukurova Üniversitesi Balcalı Hastanesi Tıbbi Genetik Polikliniği'ne başvuran ve geniş bir klinik problem yelpazesi sergileyen 580 hastaya Affymetrix CytoScan platform aracılı moleküler karyotipleme yapıldı.

Bulgular: Moleküler karyotipleme sonucunda anlıksal yetiyitimi olan hastaların %41’inde mikrodelesyon, %32’sinde duplikasyon ve %50’sinde hem delesyon hem de duplikasyon tespit edildi. Epilepsi hastalarının %16’sında mikrodelesyon, %34’ünde duplikasyon ve %50’sinde delesyon ve duplikasyon; anlıksal yetiyitiminin eşlik ettiği epileptik hastalarda %33.3 mikrodelesyon, %44.4 duplikasyon ve %22.2 hem delesyonlar hem de duplikasyon bulundu. Ayrıca, bu çalışmada bir epileptik hastada uniparental dizomi ve 2 hastada marker kromozom saptandı. 

Sonuç: Elde edilen sonuçlar, moleküler karyotipleme tekniğinin klinik rutinde uygulanmasının ve elde edilen verilerin tıbbi genetik uzmanı tarafından yorumlanmasının kromozom düzeyindeki anomalilerin veya sendromların tanınmasında faydalı olduğunu göstermektedir. Özellikle epilepsi ve anlıksal yetiyitimi olan hastaların tanısında ilk basamak tanı testi olarak moleküler karyotipleme tercih edilebilir.

References

  • Erdinç OO. İskemik strok ve epileptik nöbetler. Türk Serebrovasküler Hastalıklar Dergisi. 2010; 16:2; 31-35.
  • Bingöl CA. Epilepsi rehberi, Türk Nöroloji Derneği Epilepsi Çalışma Grubu. Epilepsi, 2012;18(1):26-38.
  • Adadıoğlu Ö, Oğuz S. Epilepsi ve öz yönetim. Epilepsi, 2016; 22(1):1-4.
  • American Psychiatric Association. (2013). Cautionary statement for forensic use of DSM-5. In Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: Author. http://dx.doi.org/10.1176/appi.books.9780890425596. Harris J.C., Greenspan S. (2016) Definition and Nature of Intellectual Disability. In: Singh N. (eds) Handbook of Evidence-Based Practices in Intellectual and Developmental Disabilities. Evidence-Based Practices in Behavioral Health. Springer, Cham.
  • Kozan S, Torun D, Bahçe M, Güran S. Psikomotor gerilik ile refere edilen bir olguda saptanan marker kromozom ve klinik bulgularla korelasyon. Cumhuriyet Tıp Derg, 2010; 32:247-250.
  • Bennabi D, Vandel P, Papaxanths C, Pozzo T, Haffen E. Psychomotor retardation in depression: a systematic review of diagnostic, pathophysiologic, and therapeutic implications. Hindawi Publishing Corporation, 2013; 158746.
  • Saltık S, Karatoprak EY,Taşel B. Tüberoskleroz kompleksi tanılı hastalarda epilepsinin özellikleri ve klinik seyri. Türk Ped Arş, 2013; 123-130.
  • Esposito G, Tremmolaterra MR, Savarese M, Spiniello M, Patrizio MP, Lombardo B, Pastore L, Salvatore F, Carsana A. Unraveling unusual X-chromosome patterns durng fragile-X syndrome genetic testing. Clin Chim Acta, doi:10.1016/j.cca.2017.11.016.
  • Noh GJ, Asher JT, Graham JM. Clinical review of genetic epileptic encephalopathies. Eur J Med Genet, 2012; 55(5):281-298.
  • Karaoğuz MY. İnsandaki genetik hastalıklar. Hastalık ve Gen Tedavisi.
  • Tunçbilek E, Temel E, Özalp İ, Teziç T, Köse MR, Üstündağ M, Haznedaroğlu D, Kaptan H. Genetik hastalıklar. Sağlık Bakanlığı Ana Çocuk Sağlığı ve Aile Planlaması Genel Müdürlüğü. Brodie MJ, Kwan P. Epilepsy in elderly people. BMJ. 2005; 331(7528):1317-1322.
  • Ünal Y, Kutlu G. Muğla Sıtkı Koçman Üniversitesi Tıp Fakültesi Epilepsi Polikliniği’nde İzlenen dirençli epilepsi hastalarının demografik ve klinik bulguları. Epilepsi, 2016; 22(3):114-119.
  • Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB. Molecular karyotypng by array CGH in a Russian cohort of children with intellectual diasbility, autism, epilepsy and congenital anomalies. Moecular cytogenetics, 2012; 5:46.
  • Yeung A, Ingrid DB, Scheffer E, Carranza D, Burgess T, Slaer HR, Amor DJ. 4.45 Mb microduplication in chromosome band 14q2 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet, 2009; 52(6):440-442.
  • Delgado L, Montes R, Prieto JA. Prevalence of psychomotor retardation and its relation to the sensory profile in preschool children. J Hum Gowth Dev. 2016; 26(3):323-330.
  • Buyukdura JS, McClintock SM, Croarkin PE. Psychomotor retardation in depression: Biological underprinnings, measurement, and treatment. Prog Neuropsycopharmacol Biol Psycthiatry. 2011; 35(2):395-409. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev, 2007; 17:182-92.
  • Cardoso C, Boys A, Parrini E, Mignon-Ravix C et al. Periventricular heterotopia, menal retardation, and epilepsy associated with 514.3-q15 deletion. Neuroogy, 2009; 72(9):784-92.
  • Crolla, JA, Youngs SA, Ennis S, Jacops PA. Supernumerary marker chromosomes in man: parental origin mosaicism and maternal age revised. Eur J Hum Genet, 2005; 13:154-60.

Clinical utility of molecular karyotyping in patients with epilepsy and intellectual disabilities

Year 2018, Volume: 43 Number: Supplement 1, 44 - 48, 29.12.2018
https://doi.org/10.17826/cumj.376982

Abstract

Purpose: The aim of this study was to investigate molecular karyotyping of epilepsy and intellectual disabilites and to reveal its relationship with these diseases. 

Materials and Methods: A total of 580 patients with a wide range of clinical problems underwent molecular karyotyping by Affymetrix CytoScan platform included in the study that were presented to Medical Genetics Policlinics of Balcali Hospital and Clinics, Cukurova University Faculty of Medicine. 

Results: Molecular karyotyping identified 41% microdeletions, 32% duplications and 50% both deletions and duplications in mental retardation patients; 16% microdeletion, 34% duplications and 50% both deletions and duplications in epilepsy patients; and 33.3% microdeletions, 44.4% duplications and 22.2% both deletions and duplications in mental retardation with epilepsy group. In addition, one of epilepsy group with uniparental disomy and 2 marker chromosomes were detected in this study. 

Conclusion: Our results demonstrate that molecular karyotyping and clinical interpretation by a medical geneticist is efficient in diagnosing chromosomal diseases. Moreover, molecular karyotyping might be more effective as a first tier testing in epilepsy and psychomotor retardation patients.


References

  • Erdinç OO. İskemik strok ve epileptik nöbetler. Türk Serebrovasküler Hastalıklar Dergisi. 2010; 16:2; 31-35.
  • Bingöl CA. Epilepsi rehberi, Türk Nöroloji Derneği Epilepsi Çalışma Grubu. Epilepsi, 2012;18(1):26-38.
  • Adadıoğlu Ö, Oğuz S. Epilepsi ve öz yönetim. Epilepsi, 2016; 22(1):1-4.
  • American Psychiatric Association. (2013). Cautionary statement for forensic use of DSM-5. In Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: Author. http://dx.doi.org/10.1176/appi.books.9780890425596. Harris J.C., Greenspan S. (2016) Definition and Nature of Intellectual Disability. In: Singh N. (eds) Handbook of Evidence-Based Practices in Intellectual and Developmental Disabilities. Evidence-Based Practices in Behavioral Health. Springer, Cham.
  • Kozan S, Torun D, Bahçe M, Güran S. Psikomotor gerilik ile refere edilen bir olguda saptanan marker kromozom ve klinik bulgularla korelasyon. Cumhuriyet Tıp Derg, 2010; 32:247-250.
  • Bennabi D, Vandel P, Papaxanths C, Pozzo T, Haffen E. Psychomotor retardation in depression: a systematic review of diagnostic, pathophysiologic, and therapeutic implications. Hindawi Publishing Corporation, 2013; 158746.
  • Saltık S, Karatoprak EY,Taşel B. Tüberoskleroz kompleksi tanılı hastalarda epilepsinin özellikleri ve klinik seyri. Türk Ped Arş, 2013; 123-130.
  • Esposito G, Tremmolaterra MR, Savarese M, Spiniello M, Patrizio MP, Lombardo B, Pastore L, Salvatore F, Carsana A. Unraveling unusual X-chromosome patterns durng fragile-X syndrome genetic testing. Clin Chim Acta, doi:10.1016/j.cca.2017.11.016.
  • Noh GJ, Asher JT, Graham JM. Clinical review of genetic epileptic encephalopathies. Eur J Med Genet, 2012; 55(5):281-298.
  • Karaoğuz MY. İnsandaki genetik hastalıklar. Hastalık ve Gen Tedavisi.
  • Tunçbilek E, Temel E, Özalp İ, Teziç T, Köse MR, Üstündağ M, Haznedaroğlu D, Kaptan H. Genetik hastalıklar. Sağlık Bakanlığı Ana Çocuk Sağlığı ve Aile Planlaması Genel Müdürlüğü. Brodie MJ, Kwan P. Epilepsy in elderly people. BMJ. 2005; 331(7528):1317-1322.
  • Ünal Y, Kutlu G. Muğla Sıtkı Koçman Üniversitesi Tıp Fakültesi Epilepsi Polikliniği’nde İzlenen dirençli epilepsi hastalarının demografik ve klinik bulguları. Epilepsi, 2016; 22(3):114-119.
  • Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB. Molecular karyotypng by array CGH in a Russian cohort of children with intellectual diasbility, autism, epilepsy and congenital anomalies. Moecular cytogenetics, 2012; 5:46.
  • Yeung A, Ingrid DB, Scheffer E, Carranza D, Burgess T, Slaer HR, Amor DJ. 4.45 Mb microduplication in chromosome band 14q2 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet, 2009; 52(6):440-442.
  • Delgado L, Montes R, Prieto JA. Prevalence of psychomotor retardation and its relation to the sensory profile in preschool children. J Hum Gowth Dev. 2016; 26(3):323-330.
  • Buyukdura JS, McClintock SM, Croarkin PE. Psychomotor retardation in depression: Biological underprinnings, measurement, and treatment. Prog Neuropsycopharmacol Biol Psycthiatry. 2011; 35(2):395-409. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev, 2007; 17:182-92.
  • Cardoso C, Boys A, Parrini E, Mignon-Ravix C et al. Periventricular heterotopia, menal retardation, and epilepsy associated with 514.3-q15 deletion. Neuroogy, 2009; 72(9):784-92.
  • Crolla, JA, Youngs SA, Ennis S, Jacops PA. Supernumerary marker chromosomes in man: parental origin mosaicism and maternal age revised. Eur J Hum Genet, 2005; 13:154-60.
There are 18 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Research
Authors

Atıl Bişgin 0000-0002-2053-9076

Sevcan Tuğ Bozdoğan 0000-0003-3853-8212

Publication Date December 29, 2018
Acceptance Date April 20, 2018
Published in Issue Year 2018 Volume: 43 Number: Supplement 1

Cite

MLA Bişgin, Atıl and Sevcan Tuğ Bozdoğan. “Epilepsi Ve anlıksal Yetiyitimi Olan Hastalarda moleküler Karyotiplemenin Klinik Yararı”. Cukurova Medical Journal, vol. 43, no. Ek 1, 2018, pp. 44-48, doi:10.17826/cumj.376982.