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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

REFERENCES

References: 

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, RosinaAngelista IJ, Gerards LJ, Cats BP, Guyt R.
Familial partial monosomy 5p and trisomy
5q: three cases due to paternal pericentric
inversion 5 (p151q333). 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 homereared 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: genotypephenotype 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: sublocalization of the critical region for the Cri-duchat 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 gonadotropin
screening for the risk of fetal chromosome
anomalies and of subsequent fetal and
neonatal deaths. Prenat Diagn 1993; 13: 29-
43.
17. Weiss A, Shalev S, Weiner E, Schneor Y,
Shalev E. Prenatal diagnosis of 5p deletion
syndrome following abnormally low
maternal serum human chorionic gonadotropin. Prenat Diagn 2003; 23: 572-574.

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