Öz
Beş aylık kız olgu yeterli tartı alamadığı için getirildi. Fizik muayenesinde boyu,kilosu, baş çevresi 3. persentilin altında olan olgunun açık renkli saçları, fasiyaldismorfizmi, yüksek damağı mevcuttu. Olgunun belirgin hipotonisi, motor retardasyonu saptanırken, tiz sesle ağlaması oldukça dikkat çekiciydi. Ekokardiyografide hemodinamik olarak önemsiz derecede olan sekundum tipi atrial septaldefekt ve midtrabeküler ventriküler septal defekt saptandı. Kraniyal MRI’da 4.ventriküllerde genişleme ve bazal ganglionlarda miyelinizasyon gecikmesi bulunmaktaydı. Olgunun periferik kanından yapılan high resolution binding kromozom analizinde 5. kromozom kısa kolunda delesyon saptanınca, 5p delesyon Cri du Chat sendromu tanısı konuldu
Anahtar Kelimeler
Kedi ağlaması 5 nolu kromozom delesyon hipotoni tartıalamama
Kaynakça
- 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: 3098-102.
- 2. Beemer FA, de France HF, Rosina-Angelista IJ et al. Familial partial monosomy 5p and trisomy 5q: three cases due to paternal pericentric inversion 5 (p151q333). Clin Genet 1984; 26: 209-15.
- 3. Hashimoto T, Tsukino R, Chiyo H et al. Reciprocal translocation through three generations:case report of cri du chat syndrome. Hum Genet 1980; 53: 145-7.
- 4. Kushnick T, Rao KW, Lamb AN. Familial 5p- syndrome. Clin Genet 1984; 26: 472-6.
- 5. Holly Ann Ishmael, A world of healt at your fingertips Gale Encyclopedia of Medicine, 2002 by the Gale Group; 2006.
- 6. Wilkins LE, Brown JA, Nance WE et al. Clinical heterogeneity in 80 home reared children with Cri du chat syndrome. J Pediatr 1983; 102: 528-33.
- 7. Van Buggenhout GJ, Pijkels E, Holvoet M et al. Cri du chat syndrome: changing phenotype in older patients. Am J ed Genet: 2000 31; 90: 203-15.
- 8. Niebuhr E. The cri du chat syndrome: epidemiology, cytogenesis and clinical features. Hum Genet 1978; 44: 227-75.
- 9. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006 5; 1: 33.
- 10. Stefanou EG, Hanna G, Foakes A et al. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002; 22: 64-6.
- 11. Harold Chen, MD, MS, FAAP, FACMG Cri-du-chat Syndrome Genetics and metabolic disease. Padiatrics 2007; 16: 44-6.
- 12. Wilkins LE, Brown JA, Nance WE et al. Clinical heterogeneity in 80 home reared children with Cri du chat syndrome. J Pediatr 1983; 102: 528-33.
- 13. Rimoin DL, Connor JM, Pyeritz R et al. Principles and Practice of Medical Genetics. 4th ed. Vol 1. 2002. p.1372-3.
- 14. 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.
- 15. 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: 151-8.
Öz
This five month-old girl was admitted to our clinic due to failure to thrive. Onphysical examination, her weight, length and head circumference was belowthe 3rd percentile, she had blond hair, facial dysmorphism and high archedpalate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the helpof high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made
Anahtar Kelimeler
Kaynakça
- 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: 3098-102.
- 2. Beemer FA, de France HF, Rosina-Angelista IJ et al. Familial partial monosomy 5p and trisomy 5q: three cases due to paternal pericentric inversion 5 (p151q333). Clin Genet 1984; 26: 209-15.
- 3. Hashimoto T, Tsukino R, Chiyo H et al. Reciprocal translocation through three generations:case report of cri du chat syndrome. Hum Genet 1980; 53: 145-7.
- 4. Kushnick T, Rao KW, Lamb AN. Familial 5p- syndrome. Clin Genet 1984; 26: 472-6.
- 5. Holly Ann Ishmael, A world of healt at your fingertips Gale Encyclopedia of Medicine, 2002 by the Gale Group; 2006.
- 6. Wilkins LE, Brown JA, Nance WE et al. Clinical heterogeneity in 80 home reared children with Cri du chat syndrome. J Pediatr 1983; 102: 528-33.
- 7. Van Buggenhout GJ, Pijkels E, Holvoet M et al. Cri du chat syndrome: changing phenotype in older patients. Am J ed Genet: 2000 31; 90: 203-15.
- 8. Niebuhr E. The cri du chat syndrome: epidemiology, cytogenesis and clinical features. Hum Genet 1978; 44: 227-75.
- 9. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006 5; 1: 33.
- 10. Stefanou EG, Hanna G, Foakes A et al. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002; 22: 64-6.
- 11. Harold Chen, MD, MS, FAAP, FACMG Cri-du-chat Syndrome Genetics and metabolic disease. Padiatrics 2007; 16: 44-6.
- 12. Wilkins LE, Brown JA, Nance WE et al. Clinical heterogeneity in 80 home reared children with Cri du chat syndrome. J Pediatr 1983; 102: 528-33.
- 13. Rimoin DL, Connor JM, Pyeritz R et al. Principles and Practice of Medical Genetics. 4th ed. Vol 1. 2002. p.1372-3.
- 14. 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.
- 15. 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: 151-8.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Aralık 2008 |
| Yayımlandığı Sayı | Yıl 2008 Cilt: 6 Sayı: 4 |