Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

American Journal of Medical Genetics

Volumn 92, Issue 5, 2000, Pages 311-317

  Braddock, Stephen R ^a,b   Henley, Kimberly M ^a   Potter, Karen L ^a   Nguyen, Hieu G ^a   Huang, Tim Hui Ming ^a  

^a University of Missouri   (United States)

^b Department of Child Health ^*  (United States)

Author keywords

3:1 malsegregation; Chromosome 21; Chromosome 5; Double trisomy; Tertiary trisomy; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME 5P; CHROMOSOME TRANSLOCATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 46,XX; KARYOTYPE 47,XYY; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TRISOMY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 5; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0034686457     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000619)92:5<311::AID-AJMG4>3.0.CO;2-7     Document Type: Article

References (49)

1. Abeliovich D, Dagan J, Lerer I, Silberstein S, Katznelson MBM, Frydman M. 1996. t(15;21)q(15;q22.1 )pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring. Am J Med Genet 66:45-51.
2. Abeliovich D, Yagupsky P, Bashan N. 1982. 3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5;14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring. Am J Med Genet 12:83-89.
3. Aula P, Leist J, von Koskull H. 1973. Partial trisomy 21. Clin Genet 4: 241-251.
4. Aviv H, Lieber C, Yenamandra A, Desposito F. 1997. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. Am J Med Genet 70:399-403.
5. Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. 1997. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet 100:669-675.
6. Biederman BM, Lin CC, Lowry RB, Somerville R. 1980. Tertiary trisomy (22q11), 47,+der(22),t(11;22). Hum Genet 53:173-177.
7. Brimblecombe FSW, Lewis FJ, Vowles M. 1977. Complete 5p trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 14: 271-275.
8. Chen H, Hoffman WH, Kusyk CJ, Tuck-Muller CM, Hoffman MG. 1995. De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland. Am J Med Genet 55:489-493.
9. Chia NL, Bousfield LR, Johnson BH. 1987. A case report of a de novo tandem duplication (5p)(p14pter). Clin Genet 31:65-69.
10. Cohen C, Cans C, Merment MA, Demongeot J, Jalbert P. 1994. Viability thresholds for partial trisomies and monosomies. A study of 1.159 viable unbalanced reciprocal translocations. Hum Genet 93:188-194.
11. Daumer-Hass C, Schuffenhauser S, Walther JU, Schipper RD, Porstmann T, Korenberg JR. 1994. Tetrasomy 21pter-q22.1 and Down syndrome: molecular definitions of the region. Am J Med Genet 53:359-65.
12. Day T, Taylor PD. 1998. Chromosomal drive and the evolution of meiotic nondisjunction and trisomy in humans. Proc Natl Acad Sci USA 95: 2361-2365.
13. De Capoa A, Warburton D, Breg WR, Miller DA, Miller OJ. 1967. Translocation heterozygosis: a cause of five cases of the Cri du Chat syndrome and two cases with a duplication of chromosome number five in three families. Am J Hum Genet 19:586-603.
14. Dichtl A, Jonas JB, Naumann GOH. 1995. Atypical Peters' anomaly associated with partial trisomy 5p. Am J Ophthalmol 120:541-542.
15. DiLiberti JH, McKean R, Webb MJ, Williams G. 1977. Trisomy 5p: delineation of clinical features. Birth Defects Orig Artic Ser XIII(3C):185-194.
16. Fraccaro M, Lindsten J, Ford CE, Iselius L. 1980. The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet 56:21-51.
17. Gardner RJM, Sutherland GR. 1996. Chromosome abnormalities and genetic counseling, second edition. New York: Oxford University Press. p 59-94.
18. Gustavson KH, Lundberg PO, Nicol P. 1988. Familial partial trisomy 5p resulting from segregation of an insertional translocation. Clin Genet 33:404-409.
19. Habedank M, Kampe G. 1975. Familial transilocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state. Humangenetik 29:207-216.
20. Hagemeijer A, Smit, EME. 1977. Partial trisomy 21. Hum Genet 38:15-23.
21. Hall B. 1966. Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality. Clin Pediatr (Phila) 5:4-12.
22. Higurashi M, Oda M, Iijima K. 1990. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev 12:770-773.
23. Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Botteli AM, Bui TH, Caufin D, Dalpra L, Delendi N, Dutrillaus B, Fukushima Y, Geraedts JPM, De Grouchy J, Gyftodimou J, Hanley AL, Hansmann I, Ishii T, Jalbert P, Jingeleski S, Kajii T, von Koskull H, Niikawa N, Noel B, Pasquali F, Probeck HD, Robinson A, Roncarati E, Sachs E, Scappaticci S, Schwinger E, Simoni G, Veenema H, Vigi V, Volpato S, Wegner RD, Welch JP, Winsor EJT, Zhang S, Zuffardi O. 1983. The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet 64:343-345.
24. Jalbert P, Sele B, Jalbert H. 1980. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene diagram drawing. A study of 151 human translocations. Hum Genet 55:209-222.
25. Jalbert P, Sele B. 1979. Factors predisposing to adjacent-2 and 3:1 disjunctions: study of 161 human reciprocal translocations. J Med Genet 16: 467-478.
26. Jenkins EC, Duncan CJ, Wright CE, Giordano FM, Wilbur L, Wisniewski K, Sklower SL, French JH, Jones C, Brown WT. 1983. Atypical Down syndrome and partial trisomy 21. Clin Genet 24:97-102.
27. Jones AM, Kennedy N, Hanson J, Fenton GW. 1997. A study of dementia in adults with Down syndrome using 99Tc(m)-HMPAO SPET. Nucl Med Commun 18:662-667.
28. Kausch K, Haaf T, Schmid M. 1988. Duplication 8q24.2-qter and 15q14-pter result from a 3:1 meiotic segregation of a maternal reciprocal translocation. Am J Med Genet 31:981-986.
29. Kleczkowska A, Fryns JP, Moerman PH, Vandenberghe K, Van Den Berghe H. 1987. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (51(13.1p15.3). Clin Genet 46:271-278.
30. Leschot NJ, Lim KS. 1979. 'Complete' trisomy 5p: de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Hum Genet 46:271-278.
31. Leichtman LG, Werner A, Bass WT, Smith D, Brothman AR. 1991. Apparent Opitz BBBG syndrome with a partial duplication of 5p. Am J Med Genet 40:173-176.
32. Lorda-Sanchez I, Urioste M, Villa A, Carrascosa MC, Vazquez MS, Martinez A, Martinez-Frias M. 1997. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet 68:476-480.
33. Mattina, T, Pierluigi M, Mazzone D, Scardilli S, Perfumo C, Mollica F. 1997. Double partial trisomy 9q34.1-qter and 21pter-q22.11: FISH and clinical Findings. J Med Genet 34:945-948.
34. Miller DA, Warburton D, Miller OJ. 1969. Clustering in deleted short-arm length among 25 cases with a Bp- chromosome. Cytogenetics 8:109-116.
35. Monteleone P, Monteleone J, Sekhon G, Hamilton W, Volk SLR, Grzegocke J, Teitjens M. 1976. Partial trisomy 5 with a carrier parent t(5p-;9p+). Clin Genet 9:437-440.
36. Opitz JM, Patau K. 1975. A partial trisomy 5p syndrome. Birth Defects XI(5):191-200.
37. Palmer CG, Blouin JL, Bull MJ, Breitfeld P, Vance GH, Van Meter T, Weaver DD, Heerema NA, Colbern SG, Korenberg JR, Antonarakis SE, Chen X. 1995. Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. Am J Med Genet 57:527-536.
38. Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis S. 1990. Clinical, cytogenetics and molecular genetic characterization of two unrelated patients with different duplications of 21q. Am J Med Genet 7(Suppl):10-19.
39. Pueschel SM, Padre-Mendoza T, Ellenbogen R. 1980. Partial trisomy 21. Clin Genet 18:392-395.
40. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R. 1992. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 42:84-90.
41. Rodewald A. 1979. Trisomy 5p syndrome (letter). J Med Genet 16:406.
42. Sanchez O, Mamunes P, Yunis JJ. 1977. Partial trisomy 20 (20q13) and partial trisomy 21 (21pter-21q21.3). J Med Genet 14:459-462.
43. Scarbrough PR, Carroll AJ, Finley SC, Hamerick K. 1986. Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation. J Med Genet 23:185-187.
44. Shabtai FS, Schwartz A, Klar D, Hart J, Dar H, Kessler E, Halbrecht I. 1990. Free proximal trisomy 21 in the mother and malformation syndrome in the son. Am J Med Genet 7(Suppl):182-185.
45. Stamberg J, Thomas GH. 1986. Unusual supernumery chromosomes: types encountered in a referred population and high incidence of associated maternal chromosome abnormalities. Hum Genet 72:140-144.
46. Steensen P, Ford JH, Lillquist K, Friedrich U. 1988. Unusual segregation in a family with a 11/21 translocation. Clin Genet 33:449-453.
47. Vowles M, McDermott A, Janota I. 1984. Trisomy 5p: a second case occurring in a previously described kindred. J Med Genet 21:144-156.
48. Williams CA, Frias JL, McCormick MK, Antonarakis SE. 1990. Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype. Am J Med Genet 7(Suppl):110-114.
49. Yunis E, Silva R, Egel H, Zuniga R, de Caballero OMT, Ramirez E, de Ruiz HP. 1978. Partial trisomy 5p. Hum Genet 43:231-237.