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5 nolu kromozomun kısa kol delesyonu (Cri du Chat) sendromu: olgu sunumu

Syndrome of short arm deletion of chromosome 5 (Cri du Chat): a case report

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2006

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
Cri du Chat Syndrome results from a deletion on the short arm of chromosome 5 (5p-). Clinical features include a high pitched monochromatic cry, facial dysmorphism, microcephaly, and severe psychomotor and mental retardation. Its incidence ranges between 1:15000 to 1:50000 live births. Recent cytogenetic and phenotypic studies have shown a clinical and cytogenetic variability. Identification of cytogenetic map of chromosome 5 allows early rehabilitation programs. It should be kept in mind that early rehabilitation and educational interventions improve the prognosis. We herein report a 9-year-old girl with Cri du Chat syndrome.
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Abstract (Original Language): 
5p- (Cri du Chat) sendromu, 5 nolu kromozomun kısa kolundaki bir delesyondan kaynaklanmaktadır. En sık görülen klinik bulguları kedi miyavlaması şeklinde ince tiz yüksek sesli ağlama, fasiyal dismorfizm, mikrosefali, ciddi psikomotor ve mental retardasyon oluşturmaktadır. İnsidans, canlı doğumlarda 1:15000 ile 1:50000 arasında değişmektedir. 5 nolu kromozom üzerinde yapılan sitogenetik ve fenotipik çalışmalar sonucunda belli büyüklük ve şekildeki delesyonların belli fenotipik özelliklerle ilişkili olduğu görülmüştür. Bu da rehabilitasyon ve eğitim programlarına erkenden başlayabilme olanağını sunmuş ve prognozu olumlu yönde etkilemiştir. Burada fenotipik özellikleri ve sitogenetik inceleme ile 5p- sendromu tanısı almış 9 yaşında bir kız hasta sunulmuştur.
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  • 1
40-42
  • Turkish

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