FA-C mutasyon olan çocuk hastada şiddetli kulak anomalisi ve erken başlangıçlı kemik iliği yetmezliği: Olgu sunumu
Loading...
Files
Date
2019
Authors
Özdemir, Zeynep Canan
Turhan, Ayşe Bozkurt
Bör, Özcan
Sivrikaya, Cansu
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
33 aylık kız hasta solukluk ve halsizlik şikayeti ile başvurdu. Fizik muayenede mikrosefali, auricula displazisi, büyüme geriliği, dismorfik görünümü, iskelet anomalileri vardı. Laboratuar incelemesinde trombositopeni ve anemi saptandı. Mitomisinle uyarılmış kromozom kırılma testinde kromozomal insitabilite gösterildi. Gen sekans analizi ile FA-C mutasyonu belirlendi. Klinik ve laboratuar bulgular ile Fankoni anemisi tanısı konuldu FA-A en yaygın görülen komplementasyon grubudur. FA-C komplementasyon grubu nispeten nadir görülür. Bu makalede nadir görülmesi nedeni ile FA-C mutasyonu olan çocuk hastanın fenotipik özelliklerini bildirmeyi amaçladık.
A thirty-three months old girl presented with palor and fatigue. On clininal examination she had microcephaly, auricular dysplasia, growth retardation, dysmorphic apperance, and skelatal deformities. Laboratory investigation revealed thrombocytopenia and anemia. Mitomycin induced chromosome breakage was detected showing chromosomal instability. FA-C mutation was identified by gene sequencing analysis. Fanconi anemia (FA) was diagnosed with clinical and laboratory findings. FA-A is the most prevalent complementation group. The FA-C complementation group is observed rarely. In this article, we aimed at reporting the phenotypical features of a pediatric patient with FA-C mutation which is relatively rare.
A thirty-three months old girl presented with palor and fatigue. On clininal examination she had microcephaly, auricular dysplasia, growth retardation, dysmorphic apperance, and skelatal deformities. Laboratory investigation revealed thrombocytopenia and anemia. Mitomycin induced chromosome breakage was detected showing chromosomal instability. FA-C mutation was identified by gene sequencing analysis. Fanconi anemia (FA) was diagnosed with clinical and laboratory findings. FA-A is the most prevalent complementation group. The FA-C complementation group is observed rarely. In this article, we aimed at reporting the phenotypical features of a pediatric patient with FA-C mutation which is relatively rare.
Description
Keywords
Fankoni anemisi, FA-C mutasyonu, Fenotip, Fanconi anemia, FA-C mutation, Phenotype
Citation
Özdemir, Z. C. vd. (2019). "FA-C mutasyon olan çocuk hastada şiddetli kulak anomalisi ve erken başlangıçlı kemik iliği yetmezliği: Olgu sunumu". Güncel Pediatri, 17(1), 183-188.