Zeynep CANAN ÖZDEMİR, Ayşe BOZKURT TURHAN, Özcan BÖR, Cansu SİVRİKAYA

FA-C Mutasyon Olan Çocuk Hastada Şiddetli Kulak Anomalisi ve Erken Başlangıçlı Kemik İliği Yetmezliği: Olgu Sunumu

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.

Anahtar Kelimeler:

Fankoni anemisi, FA-C mutasyonu, fenotip

FA-C Mutation in Children with Severe Ear Anomalies and The Early Onset of Bone Marrow Failure: Case Report

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.

Keywords:

Fanconi anemia, FA-C mutation, phenotype,

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