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

Yıl 2019, Cilt: 17 Sayı: 1, 183 - 188, 01.04.2019

Zeynep Canan Özdemir Ayşe Bozkurt Turhan Özcan Bör Cansu Sivrikaya

Öz

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

Öz

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. 

Anahtar Kelimeler

Fanconi anemia, FA-C mutation, phenotype

Kaynakça

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