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BECKWITH WIEDEMANN SENDROMLU 8 OLGUDA KLİNİK/GENETİK YAKLAŞIM ve İZLEM SÜRECİ

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2000

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Clinical and genetical genetic evaluation and. follow-up of 8 patients with Beckwith-Wiede-mann syndrome. Beckwith Wiedemann syndrome (BWS) is a congenital overgrowth syndro-me wi(h variable expression. The diagnostic approach of Beckwith-Wiedemann syndrome inc-ludes evaluation of a wide speetrum of clinical findings which often nced to be snpported by eytogenetic and molecular methods. In this study 8 patients (4 Fcnıale, 4 Male) witlı Beck-with-Wiedemann syndrome have been follovved up for 16-48 months (mean 33 months). Mac-roglossia and ear lobe anomalies were present in ali of the patients. Hemihypertrophy in 6, ab-dominal wall defects and inereased birth weight in 5, gigantism İn 4, cryptorchidİsm duc to anorehia İn 1 of 4 males and thorax deformity in 1 of the cases were present. Two patients had hyperinsulinemic hypoglycemia wilh an onset in the fİrst day of iife. Two other patients had congenital primary hypothyroİdisrn. Tumor markers (chorioembryonic antigen, P-human chorionic gonadotropin, ferritin, a-feto protein) were within normal rangcs dııring the foüow up period. Serial ultraso-nographies at 6 nıonthly intervals did not reveal any abdominal mass in the patients. Karyotype analysis (HRBT) was carried out in ali. Molecular tests for uniparental disomy (UPD) and H19 metylation were peıformed in 5 of the patients. Of ali the 5 patients analyzed, two patients exhibited decreased maternal allele with respect to paternal allele in 1 İp 15.5 re-gion, one in a sİngle locus, the other in more than one loci spreading the whole ehromosome which proved partial and total mosaİc paternal uniparental disomy respeetively. Here we report the inıportance of molecular tests and the clinical findings for the diagnosis, and the changes in clinical symptoms that have been observed during the follow-up period in our BWS cases. Our results are evaluated İn view of the literatüre
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Abstract (Original Language): 
Beckwith-Wiedemann sendromu (BWS), koujenİtal aşırı biiyüme scndromlanndandır. Yaşla hafifleyen klinik bulgular tanıyı güçleştirmektedir. Klinik bulguların sitogenctik ve moleküler yöntemler İle desteklenmesi tanı ve prognozun belirlenmesinde yardımcıdır. Bu çalışmada Beckwith-Wiedemann sendromu klinik tanısı alan 4'ü kız 4'ii erkek 8 hasta, 16-48 (ortalama 33 ay) aylık bir süreçte izlendi. Olguların tümünde makroglossi, kulak lobunda enine çizgi-lenmc ve kulak arkasında zımba deliği şeklinde çukurlanmalar mevcuttu. Karın ön duvar de-fekti ve iri doğum öyküsü (5), hemihipertrofi (6), jigantism (4), bilateral kriptorşidi (1/4) ve göğüs deformitesi (1) olguda saptandı, iki olguda yenidoğan döneminde hİpcrinsülinemik hipoglisemi vc farklı iki olguda ise konjenital primer hipotiroidi belirlendi. Tümör işaretleyicileri (korio-embrionik antijen, (S-human koriyonik gonadotropin, ferıitin, a-fetoprotein) izlem sürecinde tüm olgularda normal sınırlar içindeydi. Karın ultrasonografisi ile hiçbir olguda kitle belirlenmedi. Olguların tümünde karyotip analizi (HRBT), 5'inde ise uniparental disomi (UPD) vc H19 me-tîlasyonu için moleküler testler yapıldı. Olgulardan birinde 11. kromozomun tümünü içeren, diğerinde ise llp 15.5 bölgesinde mozaik paternal uniparental disomİ gösterildi. Tanıda klinik bulguların yamsıra moleküler testlerin önemini ve izlcmde klinik bulgularda oluşan değişiklikleri değerlendirmek amacıyla BWS'li olgu serimiz literatürdeki olgularla karşılaştırılarak sunulacaktır.
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  • 2
181-187
  • Turkish

REFERENCES

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