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Volume : 34 Issue : 3 Year : 2019



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Osteogenesis imperfecta associated with partial trisomy 20p: Case report [Medeniyet Med J]
Medeniyet Med J. 2014; 29(3): 192-195 | DOI: 10.5222/J.GOZTEPETRH.2014.192  

Osteogenesis imperfecta associated with partial trisomy 20p: Case report

Ali Karaman1, Tülay Tos2, Bilge Geçkinli1, Hatip Aydın1
1Department of Medical Genetics, İstanbul Zeynep Kamil Women and Children Training and Research Hospital, Istanbul
2Department of Medical Genetics, Dr. Sami Ulus Children’s Health and Diseases Training and Research Hospital, Ankara

Osteogenesis imperfecta (OI), a secondary cause of osteoporosis, principally manifests as bone fragility. It is an inherited disorder of connective tissue integrity, and affects up to one in 10 000 persons. Diagnosis of moderate OI is challenging due to its variable phenotypic expression and inconsistent course. Here we report a patient suffering from OI showing a moderate form of increased bone fragility and skeletal deformities, mental retardation and partial trisomy 20p.

Keywords: Osteogenesis imperfecta, partial trisomy 20p, mental retardation


Osteogenezis İmperfekta ile Parsiyel Trizomi 20p Birlikteliği: Olgu Sunumu

Ali Karaman1, Tülay Tos2, Bilge Geçkinli1, Hatip Aydın1
1İstanbul Zeynep Kamil Kadın ve Çocuk Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Anabilim Dalı, İstanbul
2Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Anabilim Dalı, Ankara

Kemik frajilitesi olarak genelikle gösterilen osteogenesis imperfekta (OI) osteoporozisin sekonder bir nedenidir. 10000’de bir kişiyi etkiler. Orta OI’nın tanısı çeşitli fenotipitk ekspresyon ve devamsız gidiş ile ilgilidir. Burada orta düzeyde artmış kemik frajilitesi ve iskelet deformitesi, mental retardasyon ve parsiyel trizomi 20p gösteren OI’lı bir hasta sunduk.

Anahtar Kelimeler: Osteogenezis imperfekta, parsiyel trizomi 20p, mental retardasyon


Ali Karaman, Tülay Tos, Bilge Geçkinli, Hatip Aydın. Osteogenesis imperfecta associated with partial trisomy 20p: Case report. Medeniyet Med J. 2014; 29(3): 192-195

Corresponding Author: Ali Karaman, Türkiye


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