Fakülteler / Faculties

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A Rare Case of Ectopia Cordis with Double Outlet Right Ventricle
(2019) Silahlı, Musa; Gokmen, Zeynel; Gokdemir, Mahmut; 0000-0003-0944-7178
Ectopiacordis is a rare anomaly. It is described that hearth is placed as partially or totally outside of thoracic cavity. Sometimes this can be accompanied liver and other organs such as intestine. Congenital heart defects are also likely to accompany to this situation. So, we present an ectopiacordis with double outlet right ventricule case who has lived for 121 days in neonatal intensive care unit.
Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
(2016) Gokturk, Bahar; Gokdemir, Mahmut; Reisli, Ismail; Yildirim, Mahmut Selman
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings.