Syndrome of short arm deletion of chromosome 5 (Cri du Chat): A case report 5 Nolu kromozomun kisa kol delesyonu (Cri du Chat) sendromu: Olgu sunumu
Gulhane Medical Journal, cilt.48, sa.1, ss.40-42, 2006 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48 Sayı: 1
- Basım Tarihi: 2006
- Dergi Adı: Gulhane Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.40-42
- Anahtar Kelimeler: Chromosome 5, Deletion, Mental retardation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. © Gülhane Askeri Tip Akademisi 2006.