Three cases of trisomy 13 mosaicism and a review of the literature

Clinical Genetics

Volumn 51, Issue 6, 1997, Pages 403-407

  Delatycki, M ^a   Gardner, R J M ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Chromosome; Mosaicism; Trisomy 13; Variable phenotype

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; DISEASE SEVERITY; FEMALE; HUMAN; LYMPHOCYTE; MALE; PATAU SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TISSUE DISTRIBUTION; TRISOMY 13;

EID: 0030919227     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02499.x     Document Type: Article

References (31)

1. Ardissone P, Bogetti T, Verona R. Un caso di trisomia 13 a mosaico. Minerva Pediatr 1982: 34: 1043-1046.
2. Bain AD, Insley J, Douglas DM, Gauld IK, Scott HA. Normal/trisomy 13-15 mosaicism in two infants. Arch Dis Child 1965: 40: 442-445.
3. Becak W, Becak ML, Schmidt BJ. Chromosome trisomy of group 13-15 in two cases of generalised congenital analgesia. (Letter). Lancet 1963: i: 664-665.
4. Beer S, Fried K, Krespin HI, Rosenblatt M, Tieder M. Trisomy 13 mosaic presenting as cleft lip and palate. Hum Hered 1976: 26: 321-323.
5. Craig AP, Luzzatti L. Translocation in trisomy D syndrome. J Pediatr 1967: 70: 264-269.
6. Elben B, Hansen S, Goebel R, Hammans W. Tissue specific 45,XO/47,XY, + 13 mosaicism in an 18-year-old woman. Hum Genet 1989: 82: 391-392.
7. Emberger JM, Nègre C, Lafon R. Trisomie 13 en mosaïque avec isochromosome: 46,XX/ 46,XX,13 -,13 qi. Ann Génét 1972: 15: 111-114.
8. Engel E, Haddow JE, Lewis JF, Tipton RE, Overall JC, McGee BJ, Levrat OJ, Engel-de Montmollin M. Three unusual trisomic patterns in children. Am J Dis Child 1967: 113: 322-328.
9. Forteza G, Baguena R, Amet E, Garcia D, Juan A. Mosaico trisomia D/normal en una nina de seis anos con un sindrome de trisomia D incompleto. Med Esp 1964: 51: 83-93.
10. Fryns JP, Casaer P, Van den Berghe H. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,13, + t(13;13)(p11;q11)/46,XX, del(13)(p11). Hum Genet 1979: 46: 237-241.
11. Green JR, Krovetz LJ, Taylor WJ. Two generations of 13-15 chromosomal mosaicism: possible evidence for a genetic defect in the control of chromosomal replication. Cytogenetics 1968: 7: 286-297.
12. Huehns ER, Hecht F, Keil JV, Motulsky AG. Developmental hemoglobin anomalies in a chromosomal triplication: D trisomy syndrome. Proc Natl Acad Sci USA 1964: 51: 89-97.
13. Knudtzon J, Ledaal P, Middlethon-Moe M, Aarskog D. 45,X/47, XY, + 13 mosaicism and Crohn's disease. Acta Paediatr Scand 1988: 77: 922-924.
14. Loevy HT, Krmpotic E, Rosenthal IM. Cleft lip and palate in D trisomy. Cleft Palate J 1975: 12: 33-43.
15. Lorch V, Fojaco R, Bauer CR. Cebocephalus associated with trisomy 13-15 mosaicism. Arch Neurol 1978: 35: 163-165.
16. Magenis RE, Hecht F, Milham S Jr. Trisomy 13 (D) syndrome: studies on parental age, sex ratio, and survival. J Pediatr 1968: 73: 222-228.
17. Moore MK, Engel E. Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders. III. Cases 6,7 and 8. Ann Génét 1970: 13: 207-212.
18. Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyake S, Kajji T. Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases. Am J Med Genet 1992: 43: 716-721.
19. Petit P, Fryns JP. Normal/trisomy 13 mosaicism in a 38-year-old male. Genetic Conns 1994: 5: 311-314.
20. Schinzel A, Schmid W, Murset G. Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Report of three cases. Hum Genet 1974: 22: 287-298.
21. Smith VS, Giacoia GP. Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13. J Med Genet 1985: 22: 228-230.
22. Sperber GH, Honore LH. Anodontia totalis fetalis in a trisomy 13 mosaic. J Dent Assoc South Africa 1988: 43: 543-546.
23. Stone D, Akad AS, Noyes C, Lamson E. 13-15 trisomy mosaicism in a normal-looking 14-year-old retarded girl. J Med Genet 1966: 3: 142-144.
24. Taylor AI, Polani PE. Autosomal trisomy syndromes, excluding Down's. Guy's Hosp Rep 1964: 113: 231-249.
25. Taylor AI. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet 1968: 5: 227-252.
26. Taylor MB, Juberg RC, Jones B, Johnson WA. Chromosomal variability in the trisomy D syndrome. Three cases and a review of the literature. Am J Dis Child 1970: 120: 374-381.
27. Therman E, Patau K, De Mars RI, Smith DW, Inhorn SL. Iso/telo D mosaicism in a child with an incomplete D trisomy syndrome. Port Acta Biol 1963: 7: 211-224.
28. Toledo SPA, Wajntal A. 47,XX + 13/46,XX mosaicism: a case report. Acta Genet Med Gemellol 1977: 26: 71-79.
29. Uchida IA, Patau K, Smith DW. Dermal patterns of 18 and D trisomies. Am J Hum Genet 1962: 14: 345-352.
30. Warkany J, Rubinstein JN, Soukup SW, Curless MC. Mental retardation, absence of patella, other malformations with chromosomal mosaicism. J Paediatr 1962: 61: 803-812.
31. Wilson MG, Melnyk J. Translocation/normal mosicism in D trisomy. Paediatrics 1967: 40: 842-846.