SavedAdd your journal

Journals / Gülhane Tıp Dergisi / 2006 / Cilt: 48 - Sayı: 1

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

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

Vural KESİK
Sebahattin VURUCU
Mustafa KUL
Erkan DEMİRKAYA
Rıdvan AKIN
Davut GÜL
Erdal GÖKÇAY
Pages
40–42
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We herein report a 9-year-old girl with Cri du Chat syndrome.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cri du Chat Syndrome results from a deletion on the short arm of chromosome 5 (5p-).
📊
Key Findings & Data:Its incidence ranges between 1:15000 to 1:50000 live births.
💡
Conclusion & Impact:We herein report a 9-year-old girl with Cri du Chat syndrome.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Cri-du-Chat sendromu · Kromozom parçası kaybı · Zeka geriliği

Abstract

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 dys-morphism, 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.

Özet

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 dismor-fizm, 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.

🔖

Cite This Article

KESİK, V., VURUCU, S., KUL, M., DEMİRKAYA, E., AKIN, R., GÜL, D., GÖKÇAY, E. (2006). Syndrome of short arm deletion of chromosome 5 (Cri du Chat): a case of report. Gülhane Tıp Dergisi, Cilt: 48 - Sayı: 1, 40–42. https://ajindex.com/articles/225405

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (16)

  1. Lejeune J, Lafourcade J, Berger R, et al. Trois cas de deletion partielle du bras court dun chromosome 5. CR Acad Sci (D) 1963; 257: 3098-3102
  2. Beemer FA, de France HF, Rosina-Angelista IJ, Gerards LJ, Cats BP, Guyt R. Familial partial monosomy 5p and trisomy 5q: three cases due to paternal pericentric inversion 5 (pl51q333). Clin Genet 1984; 26: 209-215
  3. Hashimoto T, Tsukino R, Chiyo H, Furuyama J. Reciprocal translocation t(5:6)(p13q27) through three generations: case report of cri du chat syndrome. Hum Genet 1980; 53: 145-147
  4. Kushnick T, Rao KW, Lamb AN. Familial 5p- syndrome. Clin Genet 1984; 26: 472-476
  5. Niebuhr E. The cri du chat syndrome: epidemiology, cytogenesis and clinical features. Hum Genet 1978; 44: 227-275
  6. Gersh, M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995; 56: 1404-1410
  7. Wilkins LE, Brown JA, Nance WE, Wolf B. Clinical heterogeneity in 80 home reared children with Cri du chat syndrome. J Pediatr 1983; 102: 528-533
  8. Rimoin DL, Connor JM, Pyeritz R, Korf BR. Principles and Practice of Medical Genetics. 4th ed. Vol 1. 2002: 1372-1373
  9. Wilkins LE, Brown JA, Wolf B. Psychomotor development in 65 home-reared children with cri-du-chat syndrome. J Pediatr 1980; 97: 401-405
  10. Kjaer I, Niebuhr E. Studies of cranial base in 23 patients with Cri du chat syndrome suggest a cranial development field involved in the condition. Am J Med Genet 1999; 82: 6-14
  11. Cerruti Mainardi P, Perfumo C, Cali A, et al. Clinical and molecular characterization of 80 patients with 5 p- deletion: genotype-phenotype correlation. J Med Genet 2001; 38: 151-158
  12. Overhauser J, Huang X, Gersh M, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocaliza-tion of the critical region for the Cri-du-chat syndrome. Hum Mol Genet 1994; 3: 247-252
  13. Tullu MS, Muranjan MN, Sharma SV, et al. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med 1998; 44: 101-104
  14. Stefanou EG, Hana G, Foakes A, Crocker M, Fitchett M. Prenatal diagnosis of Cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002; 22: 64-66
  15. Sarno AP Jr, Polzin WJ, Kalish VB. Fetal choroid plexus in association with Cri du chat (5p-) syndrome. Am J Ostet Gynecol 1993; 169: 1614-1615
  16. Muller F, Aegerte P, Boue A. Prospective maternal serum chorionic g