Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation

American Journal of Medical Genetics

Volumn 80, Issue 3, 1998, Pages 252-259

  Berend, Sue Ann ^a   Canún, Sonia ^b   McCaskill, Christopher ^a   Page, Scott L ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOSPITAL GENERAL DR MANUEL GEA GONZÁLEZ   (Mexico)

Author keywords

Down syndrome; Isochromosome; Mosaicism; Robertsonian translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; DOWN SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; ISOCHROMOSOME; MOSAICISM; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION;

CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 21; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MOSAICISM; POLYMERASE CHAIN REACTION; TRANSLOCATION, GENETIC; VARIATION (GENETICS);

ROBERTSONIA;

EID: 0031755758     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981116)80:3<252::AID-AJMG14>3.0.CO;2-Q     Document Type: Article

References (33)

1. Altshuler G (1982): Developmental aspects of twins, twinning, and chimerism. Perspect Pediatr Pathol 7:121-136.
2. Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA (1990): Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet 47:968-972.
3. Atkins L, Bartsocas CS (1974): Down syndrome associated with two Robcrtsonian translocations, 45,XX,-15,-21,+t(15q;21q) and 46,XX -21,+t(21q;21q). J Med Genet 11:306-309.
4. Benirschke K (1974): Chimerism and mosaicism-two different entities. Obstet Gynecol Annu 3:33-45.
5. Blouin J-L, Binkert F, Antonarakis SE (1994): Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically. Am J Med Genet 49:363-368.
6. Brahe C, Tassone F, Moscetti A, Millington-Ward A, Bova R, Serra A (1990): Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. Am J Med Genet 7:125-128.
7. Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL (1997): Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet 72:47-50.
8. Clarke MJ, Thomson DAG, Griffiths MJ, Bissenden JG, Aukett A, Watt JL (1989): An unusual case of mosaic Down syndrome involving two different Robertsonian translocations. J Med Genet 26:198-201.
9. de Grouchy J, Turleau C (1984): "Clinical Atlas of Human Chromosomes." New York: John Wiley and Sons, p 344.
10. Giraud F, Mattei JF (1975): Aspects epidémiologiques de la trisomie 21. J Génét Hum 23:1.
11. Grasso M, Uzielli, MLG, Pierluigi M, Tavellini F, Perroni L, Bricarelli FD (1989): Isochromosome not translocation in trisomy 21q21q. Hum Genet 84:63-65.
12. Hamerton JL, Canning N, Ray M, Smith J (1975): A cytogenetic survey of 14,069 newborn infants: Incidence of chromosomal abnormalities. Clin Genet 8:223-243.
13. Jacobs PA (1981): Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet 33:44-54.
14. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL (1997): Susceptible chiasmate configuration of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 14:400-405.
15. Leal-Garza CH, Cortez-Gutierrez EI, Ortiz-Jalomo R, Garcia-Cavazos R (1996): A case of mosaic Down syndrome with two Robertsonian translocations. Rev Invest Clin 48:385-388.
16. Leiber E, Shah P (1982): Two Robertsonian translocations in a boy with mental retardation. J Med Genet 19:229-232.
17. Mayr WR (1981): Human chimerism. Rev Fr Transfus Immunohematol 24:19-26.
18. Nielsen J, Wohlert M (1991): Chromosome abnormalities found among 34910 newborn children: Results from a 13-year incidence study in Aarhus, Denmark. Hum Genet 87:81-83.
19. Page SL, Shaffer LG (1997): Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nat Genet 15:231-232.
20. Page SL, Shin J-C, Han J-Y, Choo KHA, Shaffer LG (1996): Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5:1279-1288.
21. Ramos-Galván R (1976): Patrones de referencia para peso y talla en niños mexicanos. Bol Med Hosp Infant Mex [Suppl]:1-107.
22. Robinson WP, Bernasconi F, Basaran S, Yuksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Luleci G, Schinzel AA (1994): A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
23. Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA (1996): Molecular studies of translocations and trisomy involving chromosome 13. Am J Med Genet 61:158-163.
24. Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE (1991): A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum Genet 86:375-382.
25. Shaffer LG, McCaskill C, Haller V, Brown JA, Jackson-Cook CK (1993): Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome. Am J Med Genet 47:1218-1222.
26. Shaffer LG, McCaskill C, Han J-Y, Choo KHA, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL (1994): Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
27. Tharapel AT, Redheendran R, Mankinen CB, Kukolich MK (1984): Mosaic Down syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement. J Med Genet 21:391-395.
28. Therman E, Susman M (1993): "Human Chromosomes: Structure, Behavior, and Effects." 3rd Edition. New York: Springer-Verlag.
29. Van Dyke DL, Babu VR, Weiss L (1987): Parental age, and how extra isochromosomes (secondary trisomy) arise. Clin Genet 32:75-80.
30. Vianna-Morgante AM, Nunesmaia HG (1978): Dissociation as probable origin of mosaic 45,XY,t(14;21)/46,XY,i(21q). J Med Genet 15:305-310.
31. White MJD (1973): "Animal Cytology and Evolution." 3rd edition. London: Cambridge University Press, pp 198-230.
32. Zellweger H, Abbo G (1965): Familial mosaicism attributable to a new gene. Lancet 1:455-457.
33. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL (1989): Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA. Am J Hum Genet 44:255-263.