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
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