The natural history of Cri du Chat Syndrome. A report from the Italian Register

European Journal of Medical Genetics

Volumn 49, Issue 5, 2006, Pages 363-383

  Mainardi, Paola Cerruti ^a   Pastore, Guido ^a   Castronovo, Chiara ^a   Godi, Michela ^a   Guala, Andrea ^a   Tamiazzo, Stefania ^a   Provera, Sandro ^a   Pierluigi, Mauro ^b   Bricarelli, Franca Dagna ^b  

^a SANT'ANDREA HOSPITAL   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

5p deletion; Cri du Chat syndrome; Cri du Chat syndrome natural history; FISH; Mental retardation

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BRAIN DYSFUNCTION; CAT CRY SYNDROME; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; ENVIRONMENTAL FACTOR; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HEART DISEASE; HEREDITY; HISTORY; HUMAN; INFANT; INTUBATION; KIDNEY MALFORMATION; LARYNX DISORDER; MAJOR CLINICAL STUDY; MALE; MORTALITY; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY TRACT INFECTION; SKILL; SOCIALIZATION; SUCKING; CHROMOSOME 5; CHROMOSOME BANDING PATTERN; CYTOGENETICS; GENE TRANSLOCATION; GENETICS; ITALY; MIDDLE AGED; NEWBORN; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; REGISTER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; CYTOGENETICS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; ITALY; MALE; MIDDLE AGED; PHENOTYPE; PREGNANCY; PSYCHOMOTOR DISORDERS; REGISTRIES; TRANSLOCATION, GENETIC;

EID: 33749267032     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.12.004     Document Type: Article

References (56)

1. Baccichetti C. Del(5p) without "cri du chat" phenotype. Hum. Genet. 60 (1982) 389
2. Baccichetti C., Lenzini E., Artifoni L., Caufin D., and Marangoni P. Terminal deletion of the short arm of chromosome 5. Clin. Genet. 34 (1988) 219-223
3. Breg W.R., Steele M.W., Miller O.J., Warburtonb D., Capoa A., and Allerdice P.W. The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No5 (5p-). J. Pediatr. 77 (1970) 782-791
4. Brislin R.P., Stayer S.A., and Schwartz R.E. Anaesthetic considerations for the patient with cri du chat syndrome. Paediatr. Anaesth. 5 (1995) 139-141
5. Carlin M.E. The improved prognosis in cri-du-chat (5p-) syndrome. In: Fraser W. (Ed). Proceedings of the 8th Congress of International Association for the Scientific Study of Mental Deficiency, Blackwell, Edinburgh (1990) 64-73
6. Cerruti Mainardi P., Vianello M.G., and Bonioli E. Considerazioni su 5 casi di sindrome di "cri du chat. Minerva Pediatr. 28 (1976) 2389-2400
7. Cerruti Mainardi P. La sindrome del cri du chat in età adulta. In: Andria G., Dagna Bricarelli F., del Porto G., De Marchi M., and Federico A. (Eds). Patologia genetica ad esordio tardivo (1987), Monduzzi, Bologna 113-128
8. Cerruti Mainardi P., Calì A., Guala A., Perfumo C., Liverani M.E., Pastore G., Overhauser J., Zara F., Pierluigi M., and Dagna Bricarelli F. Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p. Am. J. Hum. Genet. 753 (2000) 145
9. Cerruti Mainardi P., Guala A., Pastore G., Pozzo G., Dagna Bricarelli F., and Pierluigi M. Psychomotor development in cri du chat sindrome. Clin. Genet. 57 (2000) 459-461
10. Cerruti Mainardi P., Perfumo C., Calì A., Coucourde G., Pastore G., Cavani S., Zara F., Overhauser J., Pierluigi M., and Dagna Bricarelli F. Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. J. Med. Genet. 38 (2001) 151-158
11. P. Cerruti Mainardi, Cri-du chat syndrome. Orphanet encyclopedia. October 2003: http://www.orpha.net/data/patho/GB/uk-criduchat.pdf.
12. Church D.M., Bengtsson U., Nielsen K.V., Wasmuth J.J., and Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am. J. Hum. Genet. 56 (1995) 1162-1172
13. Church D.M., Yang J., Bocian M., Shiang R., and Wasmuth J.J. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res. 7 (1997) 787-801
14. Clarke D.J., and Boer H. Problem behaviors asssociated with deletion Prader-Willi, Smith-Magenis, and Cri du Chat Syndromes. Am. J. Ment. Retard. 103 (1998) 264-271
15. Cornish K.M., and Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch. Dis. Child. 75 (1996) 448-450
16. Cornish K.M., Bramble D., and Munir F. Adaptive and maladaptive behaviour in children wit cri-du-chat syndrome. Journal of Applied Research in Learning Disabilities 11 (1998) 239-246
17. Cornish K.M., Bramble D., Munir F., and Pigram J. Cognitive functioning in children with typical cri du chat (5p-) syndrome. Dev. Med. Child Neurol. 4 (1999) 263-266
18. Cornish K.M., Cross G., Green A., Willatt L., and Bradshaw J.M. A neuropsychological-genetic profile of atypical cri-du-chat syndrome: implications for prognosis. J. Med. Genet. 36 (1999) 567-570
19. Cornish K.M., and Bramble D. Cri du Chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Dev. Med. Child Neurol. 44 (2002) 494-497
20. Dallapiccola B. Malattia del "cri du chat" (5p-). In: Baserga A., Castoldi G.L., and Dallapiccola B. (Eds). La patologia cromosomica (1973), L. Pozzi, Roma 416-436 a
21. Dallapiccola B., Pistocchi G., Forabosco A., and Capra L. Skeletal changes in the "cri du chat" sindrome. Acta Genet. Med. Gemellol. (Roma) 22 (1973) 39-44 b
22. Dallapiccola B. Sindrome del "cri du chat". In: Mastroiacovo P., Dallapiccola B., Andria G., Camera G., and Lungarotti M.S. (Eds). Difetti congeniti e sindromi malformative (1990), McGraw Hill Libri Italia, Milano 254-255
23. Dykens E.M., and Clarke D.J. Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. Dev. Med. Child Neurol. 39 (1997) 752-756
24. Frankenburg W.K., Dodds J.B., Archer P., Shapiro H., and Bresnick B. The Denver II: a major revision restandardization of the Denver Developmental Screening Test. Pediatrics 89 (1992) 91-97
25. Gersh M., Goodart S.A., Pasztor L.M., Harris D.J., Weiss L., and Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am. J. Hum. Genet. 56 (1995) 1404-1410
26. Gersh M., Grady D., Rojas K., Lovett M., Moyzis R., and Overhauser J. Development of diagnostic tools for the analysis of 5p deletions using interphase FISH. Cytogenet. Cell Genet. 77 (1997) 246-251
27. Higurashi M., Oda M., Iijima K., Iijima S., Takeshita T., Watanabe N., and Yoneyama K. Livebirths prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev. 12 (1990) 770-773
28. ISCN, 1995. In: Mitelman F. (Ed). An International System for Human Cytogenetic Nomenclature (1995), S. Karger, Basel (1995)
29. Kjaer I., and Niebuhr E. Studies of cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am. J. Med. Genet. 82 (1999) 6-14
30. Lejeune J., Lafourcade J., Berger R., Vialatte J., Boeswillwald M., Seringe P., and Turpin R. Trois cas de délétion partielle du bras court d'un chromosome 5. C.R. Acad. Sci. (D) 257 (1963) 3098-3102
31. Lichter P., and Cremer T. Chromosome analysis by non-isotopic in situ hybridization. In: Rooney D.E., and Czepulkowsky B.H. (Eds). Human Cytogenetics-A Practical Approach (1992), IRL press, New York 157-192
32. Marinescu R.C., Johnson E.I., Grady D., Chen X.N., and Overhauser J. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin. Genet. 56 (1999) 282-288
33. Marinescu R.C., Cerruti Mainardi P., Collins M.R., Kouahou M., Coucourde G., Pastore G., Eaton-Evans J., and Overhauser J. Growth charts for cri-du-chat syndrome: an international collaborative study. Am. J. Med. Genet. 94 (2000) 153-162
34. Medina M., Marinescu R.C., Overhauser J., and Kosik S.K. Hemizigosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63 (2000) 157-164
35. Niebuhr E. The cat cry syndrome (5p-) in adolescents and adults. J. Ment. Defic. Res. 15 (1971) 277-291
36. Niebuhr E. Cytologic observations in 35 individuals with a 5p- karyotype. Hum. Genet. 42 (1978) 143-146 a
37. Niebuhr E. The cri du chat syndrome. Epidemiology, cytogenetics and clinical features. Hum. Genet. 44 (1978) 227-275 b
38. Niebuhr E. Antropometry in the Cri du Chat syndrome. Clin. Genet. 16 (1979) 82-95
39. Overhauser J., Huang X., Gersh M., Wilson W., McMahon J., Bengtsson U., Rojas K., Meyer M., and Wasmuth J.J. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum. Mol. Genet. 3 (1994) 247-252
40. Perfumo C., Cerruti Mainardi P., Calì A., Coucourde G., Zara F., Cavani S., Overhauser J., Dagna Bricarelli F., and Pierluigi M. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J. Med. Genet. 37 (2000) 967-972
41. Peterson E.T., Sutherland R., Robinson D.L., Chasteen L., Gersh M., Overhauser J., Deaven L.L., Moyzis R.K., and Grady D.L. An integrated physical map for the short arm of human chromosome 5. Genome Res. 9 (1999) 1250-1267
42. Prina E.G., Cortinovis I., Casciati M.C., Chiodi A., Invernizzi L., Alberti S., Bossi A., and Rossi L.N. Valutazione critica del test di Denver sulla base di un campione di bambini di Milano. Riv. Ital. Pediatr. 22 (1996) 322-330 (IJP)
43. Rethorè M.O. Le phénotype adulte dans les syndromes par aberration chromosomique. In: Andria G., Dagna Bricarelli F., del Porto G., De Marchi M., and Federico A. (Eds). Patologia genetica ad esordio tardivo (1987), Monduzzi, Bologna 83-104
44. Rizzi M., Valutazione immunologica in pazienti affetti dalla sindrome del cri du chat 5p-. Tesi di Laurea, Facoltà di Medicina e Chirurgia, Università degli Studi di Milano, Anno Accademico, 1996-1997.
45. Rossi E., De Gregori M., Patricelli M.G., Pramparo T., Argentiero L., Giglio S., Sosta G., Forasti G., and Zuffardi O. 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. Am. J. Med. Genet. 133 (2005) 189-192
46. Schinzel A. Catalogue of unbalanced chromosome aberrations in man (1984), Walter de Gruyter, Berlin
47. Simmons A.D., Goodard S.A., Gallardo T.D., Overhauser J., and Lovett M. Five novel genes from the cri- du-chat critical region isolated by direct selection. Hum. Mol. Genet. 4 (1995) 295-302
48. Simmons A.D., Pueschel A.W., Mc Pherson J.D., Overhauser J., and Lovett M. Molecular cloning and mapping of human Semaphorin F from the Cri-du-Chat candidate interval. Biochem. Biophys. Res. Com. 242 (1998) 685-691
49. Van Buggenhout G.J.C.M., Pijkels E., Holvoet M., Schaap C., Hamel B.C.J., and Fryns J.P. Cri du Chat Syndrome: changing phenotype in older patients. Am. J. Med. Genet. 90 (2000) 203-215
50. Wilkins L.E., Brown J.A., and Wolf B. Psychomotor development in 65 home-reared children with cri-du-chat syndrome. J. Pediatr. 97 (1980) 401-405
51. Wilkins L.E., Brown J.A., Nance W.E., and Wolf B. Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J. Pediatr. 102 (1983) 528-533
52. Winter R.M., and Baraitser M. Malformation syndromes-a diagnostic approach. Arch. Dis. Child. 59 (1984) 294-295
53. Wu Q., Niebuhr E., Yang H., and Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur. J. Hum. Genet. (2005) (Jan 19 1-11 [Epub ahead of print])
54. Yamashita M., Tanioka F., Taniguchi K., Maisuki A., and Oyama T. Anesthetic considerations in cri du chat syndrome: a report of three cases. Anesthesiology 63 (1985) 201-202
55. Zhang A., Zheng C., Hou M., Lindvall C., Li K., Erlandsson F., Björkholm M., Gruber A., Blennow E., and Xu D. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in cri du chat syndrome. Am. J. Hum. Genet. 72 (2003) 940-948
56. Zhang X., Snijders A., Segraves R., Zhang X., Albertson D., Yang H., Gray J., Niebuhr E., Bolund L., and Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am. J. Hum. Genet. 76 (2005) 312-326