Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Human Genetics

Volumn 124, Issue 4, 2008, Pages 387-392

  de Carvalho, Acácia Fernandes Lacerda ^a,b   Bellucco, Fernanda Teixeira da Silva ^a   Kulikowski, Leslie Domenici ^a   Toralles, Maria Betânia Pereira ^b,c   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b DNA Laboratorial Center of Genetics and Molecular Biology   (Brazil)

^c FEDERAL UNIVERSITY OF BAHIA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CAT CRY SYNDROME; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME 15P; CHROMOSOME 5P; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE MAPPING; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; TRISOMY;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; PHENOTYPE; TRANSLOCATION, GENETIC; TRISOMY;

BACTERIA (MICROORGANISMS);

EID: 55749092277     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0557-x     Document Type: Article

References (35)

1. Avansino JR, Dennis TR, Spallone P, Stock AD, Levin ML (1999) Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. Am J Med Genet 87:6-11
2. Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P (1988) Terminal deletion of the short arm of chromosome 5. Clin Genet 34:219-223
3. Baialardo EM, Torrado Mdel V, Barreiro CZ, Gallego MS (2003) Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation. Clin Dysmorphol 12:257-259
4. Brimblecombe FS, Lewis FJ, Vowles M (1977) 'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 14:271-274
5. Carnevale A, Hernandez M, Limon-Toledo I, Frias S, Castillo J, Del Castillo V (1982) A clinical syndrome associated with dup(5p). Am J Med Genet 13:277-283
6. Cervera M, Sanchez S, Molina B, Alcantara MA, Del Castillo V, Carnevale A, Gonzalez-del Angel A (2005) Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3). Am J Med Genet A 136A:381-385
7. Chia NL, Bousfield LR, Johnson BH (1987) A case report of a de novo tandem duplication (5p) (p14-pter). Clin Genet 31:65-69
8. Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E (1995) Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172
9. Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ (1997) A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p. Genome Res 7:787-801
10. Collins MS, Cornish K (2002) A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. J Intellect Disabil Res 46:133-140
11. D'Amato Sizonenko L, Ng D, Oei P, Winship I (2002) Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype. Am J Med Genet 111:119-126
12. Dykens EM, Clarke DJ (1997) Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. Dev Med Child Neurol 39:752-756
13. Fang JS, Lee KF, Huang CT, Syu CL, Yang KJ, Wang LH, Liao DL, Chen CH (2008) Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. Clin Genet 73:585-590
14. Gardner RJ, Sutherland GR (2004) Chromosome abnormalities and Genetic Counseling. Oxford University Press, Oxford, pp 88-90
15. Goodart SA, Butler MG, Overhauser J (1996) Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. Hum Genet 97:802-807
16. Grosso S, Cioni M, Garibaldi G, Pucci L, Galluzzi P, Canapicchi R, Morgese G, Balestri P (2002) De novo complete trisomy 5p: Clinical and neuroradiological findings. Am J Med Genet 112:56-60
17. Kulikowski LD, Christ LA, Nogueira SI, Brunoni D, Schwartz S, Melaragno MI (2006) Breakpoint mapping in a case of mosaicism with partial monosomy 9p23->pter and partial trisomy 1q41->qter suggests neo-telomere formation in stabilizing the deleted chromosome. Am J Med Genet A 140:82-87
18. Kushnick T, Rao KW, Lamb AN (1984) Familial 5p-syndrome. Clin Genet 26:472-476
19. Lorda-Sanchez I, Urioste M, Villa A, Carrascosa MC, Vazquez MS, Martinez A, Martinez-Frias ML (1997) Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet 68:476-480
20. Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD (2006) The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet 49:363-383
21. Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD (2001) Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 38:151-158
22. Niebuhr E (1978) Cytologic observations in 35 individuals with a 5p-karyotype. Hum Genet 42:143-156
23. Overhauser J, Beaudet AL, Wasmuth JJ (1986) A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet 39:562-572
24. Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ (1994) 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 3:247-252
25. Posmyk R, Panasiuk B, Yatsenko SA, Stankiewicz P, Midro AT (2005) A natural history of a child with monosomy 5p syndrome (Cat-cry/ Cri-du-chat) during the 18 years of follow-up. Genet Couns 16:17-25
26. Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG (1999) De novo complete trisomy 5p: clinical report and FISH studies. Am J Med Genet 85:447-451
27. Riordan D, Vust A, Wickstrom DE, Brown J, Chudley AE, Tomkins D, Chudoba I, Dawson AJ (2002) Identification of a dup(5)(p15.3) by multicolor banding. Clin Genet 61:277-282
28. Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man. Walter de Gruyter, New York
29. Stengel-Rutkowski S, Stene J, Gallano P (1988) Risk estimates in balanced parental reciprocal translocations. Expansion Scientifique Française, Editeur Paris
30. Velagaleti GV, Morgan DL, Tonk VS (2000) Trisomy 5p. A case report and review. Ann Genet 43:143-145
31. Vowles M, McDermott A, Janota I (1984) Trisomy 5p: A second case occurring in a previously described kindred. J Med Genet 21:144-146
32. Webb GC, Voullaire LE, Rogers JG (1988) Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet 30:875-881
33. Zabel B, Baumann W, Gehler J, Conrad G (1978) Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. J Med Genet 15:143-147
34. Zenger-Hain JL, Van Dyke DL, Wiktor A, Walker H, Feldman GL (1993) Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. Am J Med Genet 47:1198-1201
35. Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D (2005) High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 76:312-326