1. Simmons AD, Overhauser J, Lovett M. Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. Genome Res 1997; 7: 118-127.
2. Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J.Variability in a family with an insertion involving 5p. Am J Med Genet 1999; 86: 258-263.
3. Niebuhr E. The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978; 44: 227-257.
4. Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001; 38: 151-158.
5. Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG. De novo complete trisomy 5p: clinical report and FISH studies. Am J Med Genet 1999; 85: 447-451.
6. Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res 1997; 7: 787-801.
7. Gersh M, Goodart SA, Overhauser J. Physical mapping of genetic markers on the short arm of chromosome 5. Genomics 1994; 24: 577-579.
8. Cornish K, Bramble D. Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management.; Dev Med Child Neurol 2002; 44: 494-497.
9. Dan M, Niebuhr A, Zhang X, Zhang X, Gao C. Dissection and cytogenetic localization of the phenotypes of the 5p deletion syndrome; Zhongguo Yi Xue Ke Xue Yuan Xue Bao 1998; 20: 339-344.
10. Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch A. Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum Genet 2000; 107: 51-57.
11. Andrle M, Erlach A, Rett A. Partial monosomy and trisomy 5p due to balanced translocation t (3,5) in the father. Wien Klin Wochenschr 1981; 93: 16-19.
12. Qumsiyeh MB, Stevens CA. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat. Am J Med Genet 1993; 47: 387-391.
13. Gencik A, Gencikova A, Palova A. Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation. Acta Paediatr Acad Sci Hung 1982; 23: 291-298.
14. McDermott A, Poulding R, Creery D. Cri-Du-Chat syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14) pat karyotype. Hum Genet 1977; 39: 109-112.
15. Hashimoto T, Tsukino R, Chiyo H, Furuyama J. Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome. Hum Genet 1980; 53: 145-147.
16. Bernstein R, Bocian ME, Cain MJ, Bengtsson U, Wasmuth JJ. Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization. Am J Med Genet 1993; 46: 77-82.
17. Rethore MO, Couturier J, Villain E, Hambourg M, Lejeune J. Cri-du-chat syndrome and trisomy 8p due to a paternal translocation t(5;8)(p1409;p12). Ann Genet 1984; 27: 118-121.
18. Sigmund J, Frisch H, Heinz-Erian P, Rhomberg K, Wegner RD. Cri du chat-syndrome in combination with partial trisomy 9p. Padiatr Padol 1986; 21: 61-67.
19. Monteleone P, Monteleone J, Sekhon G, Hamilton W, Volk SL, Grzegocki J, Tietjens M. Partial trisomy 5 with a carrier parent t(5p-;9p+). Clin Genet 1976; 9: 437-440.
20. Wellesley D, Young ID, Cooke P, Callen DF, Hockey A. Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family. J Med Genet 1988; 25: 707-710.
21. Mutchinick O, Ramos Z, Sanchez F, Ruz L, Lisker R, Ovseyevitz J. Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations. Am J Med Genet 1988; 29: 187-192.
22. Singh DN, Osborne RA, Wiscovitch RA. Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+). Humangenetik 1973; 20: 361-365.
23. Zhang SZ, Tang YC, Dai FP, Niebuhr E. 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly. Clin Genet 1990; 37: 153-157.
24. Mazurczak T, Stolarska A, Sito A, Mataszewska K. Familial occurrence of the cat's cry (cri du chat) syndrome resulting from a balanced t(5:12) translocation (author's translation). Probl Med Wieku Rozwoj 1977; 7: 169-177.
25. Bass HN, Sparkes RS, Crandall BF, Galos KJ, Howard J. A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child. Ann Genet 1978; 21: 56-59.
26. Gebauer HJ, Stumpf B, Hansmann I, Grimm T. Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin. Clin Genet 1978; 14: 345-350.
27. Zolotukhina TV, Butomo IV, Rozovskii IS, Grinberg KN. Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother. Genetika 1981; 17: 1304-1308.
28. Abrisqueta JA, Perez A, Aller V, Del Mazo J, Goday C, Martin MA, De Torres ML. Cri du chat syndrome and translocation t(5p--;18p+). J Genet Hum 1976; 24: 173-182.
29. Hutcheon RG, Mallik A, Shaham M. Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. J Med Genet 1998; 35: 865-867.
30. Silengo MC, Andria G. Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. Hum Genet 1976; 34: 319-322.
31. Arts WF, Hofstee Y, Drejer GF, Beverstock GC, Oosterwijk JC. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10. Neuropediatrics 1995; 26: 41-44.
32. Back E, Vogel W, Hertel C, Schuchmann L. Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship. Hum Genet 1978; 41: 11-17.
33. Carpentier S, Dutrillaux B, Lafourcade J, Berger R, Rethore MO, Lejeune J. Familial segregation of a t(5p?; 13q+). Complementary analysis from specimens preserved in liquid nitrogen. Ann Genet 1972; 15: 57-60.
34. Leisti J, Kaback MM, Rimoin DL. Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation. Original Article Series: Birth Defects 1975; 11: 317-319.
35. Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A. A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. J Intellect Disabil Res 1998; 42: 254-258.
36. Iqbal MA, Ahmed MZ, Wu D, Sakati N. A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. Am J Med Genet 1997; 70: 174-178.
37. Chaganti RS, Morillo-Cucci G, Friis L, Degnan M, German J. De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation. Ann Genet 1976; 19: 43-48.
38. Petit P, Fryns JP. Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: three further examples of the Bp monosomy epistatic effect. Genet Couns 1990; 1: 179-184.
39. Gardner RM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 2nd Edition. Oxford Monographs on Medical Genetics 29, Oxford University Press, Oxford, UK, 1996; 59-94.