Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

American Journal of Medical Genetics

Volumn 75, Issue 4, 1998, Pages 432-437

  Harada, Naoki ^a   Abe, Kyohko ^a   Nishimura, Tomoko ^a   Sasaki, Kiminori ^a   Ishikawa, Mutsuo ^a   Fujimoto, Masahiro ^a   Matsumoto, Tadashi ^a   Niikawa, Norio ^a  

^a Kyushu Medical Science Nagasaki Laboratory   (Japan)

Author keywords

Chromosomal heteromorphism; Dna polymorphism; Mosaicism; Origin of mixoploidy

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; FETUS; FETUS ECHOGRAPHY; GENOTYPE; HUMAN; KARYOTYPE 45,X; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; VERTICAL TRANSMISSION;

EID: 0032477779     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980203)75:4<432::aid-ajmg17>3.0.co;2-p     Document Type: Article

References (22)

1. Abe K, Harada N, Itoh T, Hirakawa O, Niikawa N (1996): Trisomy 13/trisomy 18 mosaicism in an infant. Clin Genet 50:300-303.
2. Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH (1990): Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum Genet 85:555-559.
3. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC (1991): Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Am J Hum Genet 48:137-144.
4. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Mark S. Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996): A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380 [special issue: The Généthon human genetic linkage map].
5. Gattrad AR (1981): Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome. J Med Genet 18:148-151.
6. Grosse KP, Hopfengartner F, Schwanitz G (1971): Doppelte aneuploidie: 46,XX/45,XO/47,XX,+G. Humangenetik 13:333-337.
7. Harada N, Abe K, Kondoh T, Hirota T, Niikawa N (1989): Satellited chromosome 9 in a boy with multiple anomalies. Jpn J Hum Genet 34:297-305.
8. Hoban PR, Kelsey AM (1991): HinfI polymorphism within the 3′ untranslated region of the candidate Wilms tumor gene. Nucleic Acids Res 19:1164.
9. Hustinx TWJ, ter Harr BGA, Scheres JMJC, Rutten FJ (1974): Autosomal/heterosomal mixoploidy: A report on two patients, a female with a 45,X/47,XX,+21 and a male with a 45,X/47,XY,+21 chromosome constitution. Ann Genet 17:225-234.
10. Jaruratanasirikul S, Jinorose U (1995): An infant with Down-Turner double aneuploidy: A case report and literature review. J Med Assoc Thai 78:108-111.
11. Ledbetter DH, Engel E (1995): Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
12. MacFaul R, Turner T, Mason MK (1981): Down's/Turner's syndrome. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality. Arch Dis Child 56:962-963.
13. McCorquadale MM, Cummins T, Furlong J (1985): Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism. Prenat Diagn 5:295-298.
14. Niikawa N, Kajii T (1984): Origin of mosaic Down syndrome: Four cases with chromosome markers. Am J Hum Genet 36:123-130.
15. Nilsson M, Krejci K, Koch J, Kwiatkowski M, Gustavsson P, Landegren U (1997): Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21. Nature Genet 16:252-255.
16. Polymeropoulos MH, Xiao H, Rath DS, Merril CR (1991): Tetra nucleotide repeat polymorphism at the human tyrosine hydrolase gene (TH). Nucleic Acids Res 19:3753.
17. Reid LCM (1979): Cloning. In WB Jakoby, IH Pastan (eds): "Cell Culture." Methods in Enzymology, Vol. 58. San Diego: Academic Press, pp 152-164.
18. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werber EA, Schinzel AA (1995): Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56:444-451.
19. Schinzel A (1983): "Catalogue of Unbalanced Chromosome Aberrations in Man." Berlin: Walten de Gluyter.
20. Townes PL, White MR, Stiffler SJ, Goh K (1975): Double aneuploidy. Am J Dis Child 129:1062-1065.
21. Villaverde MM, da Silva JA (1975): Turner-mongolism polysyndrome. Review of the first eight known cases. JAMA 234:844-847.
22. Yeung CY, Yang L (1976): Down's syndrome with XO/XY mosaicism. Acta Pediatr Scand 65:391-395.