A case of mosaic Down's syndrome with two Robertsonian translocations

Revista de Investigacion Clinica

Volumn 48, Issue 5, 1996, Pages 385-388

  Leal Garza, Carlos H ^a   Cortés Gutiérrez, Elva I ^a   Ortiz Jalomo, Ricardo ^b   García Cavazos, Ricardo ^c  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b Hospital de Ginecología Y Obstetricia de Monterrey   (Mexico)

^c INSTITUTO NACIONAL DE PERINATOLOGÍA   (Mexico)

Author keywords

Down's syndrome; Down's syndrome and translocation; Mosaicisms and 21 trisomy; Robertsonian translocations and Down's syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME 21; DOWN SYNDROME; FEMALE; GENE TRANSLOCATION; GENETICS; HUMAN; KARYOTYPING; MOSAICISM; NEWBORN;

CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MOSAICISM; TRANSLOCATION, GENETIC;

EID: 3242830066     PISSN: 00348376     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Zellweger H, Abbo G. Familial mosaicism attributable to a new gene. Lancet 1965; 1:455-7.
2. Atkins L, Bartsocas CS. Down's syndrome associated with two Robertsonian translocations 45 XX t(15q21q) and 46,XX-21+t(21q21q). J Med Genet 1974; 11:306-9.
3. Lieber E, Shah P. Two Robertsonian translocations in a boy with mental retardation. J Med Genet 1982; 19:229-32.
4. Tharapel AT, Redheedran R, Mankinen CB, Kukolich MK. Mosaic Down's syndrome with the novo 45,XX,-21,-22,+ t(21q,22q)/46,XX-21,+ t(21q;21q) rearrangement. J Med Genet 1984; 21:391-5.
5. Clarke MJ, Thomson DAG, Griffiths MJ, Bissenden JG, Aukett A, Watt JL. An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations. J Med Genet 1989; 26:198-201.
6. Vianna-Morgante AM, Nunesmaia HG. Dissociation as probable origin of mosaic 45,XY, t(15;21) /46, XY i(21q). J Med Genet 1978; 15:305-10.
7. Verma R, Babu A. Human chromosomes. Manual of basic techniques. New York: Pergamon Press, 1989:4-67.
8. Frias S, Carnevale A, Zavaleta MJ, Molina B. Mitomycin C. Effect on Robertsonian translocations. Ann Genet 1988; 31:162.
9. Ortiz de Zarate G, Carnevale A, Frias S, Zavaleta MJ, Molina B, Blanco B. Acción de las radiaciones gama sobre las translocaciones robertsonianas. Rev Invest Clin 1991; 43:151.