Prenatal diagnosis and genetic analysis of a fetus with 47, XX,+21/46,XX mosaicism and XX/XY chimerism

Journal of the Formosan Medical Association

Volumn 105, Issue 8, 2006, Pages 659-663

  Hwa, Hsiao Lin ^a   Ko, Tsang Ming ^a,b,c   Huang, Chien Hao ^b   Chang, Li Shu ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b Genephile Molecular Diagnostic Laboratory   (Taiwan)

^c Genephile Molecular Diagnostic Laboratory ^*  (Taiwan)

Author keywords

Chimerism; Mosaicism; Polymorphic DNA markers

Indexed keywords

DNA MARKER;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CELL LINE; CHIMERA; CHROMOSOME ANALYSIS; CONTROLLED STUDY; CORDOCENTESIS; DNA POLYMORPHISM; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; GESTATION PERIOD; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MOLECULAR GENETICS; PATIENT REFERRAL; PERINATAL PERIOD; PRENATAL DIAGNOSIS; SEX CHROMOSOME MOSAICISM; TWIN PREGNANCY; UMBILICAL CORD BLOOD;

EID: 33748484913     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60165-0     Document Type: Article

References (19)

1. Fitzgerald PH, Donald RA, Kirk RL. A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes. Clin Genet 1979;15:89-96.
2. Ford CE. Mosaics and chimaeras. Br Med Bull 1969;25: 104-9.
3. Freiberg AS, Blumberg B, Lawce H, et al. XX/XY chimerism encountered during prenatal diagnosis. Prenat Diagn 1988;8:423-6.
4. Yaron Y, Feldman B, Kramer RL, et al. Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report. Am J Med Genet 1999;84:12-4.
5. Niikawa N, Kajii T. Origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet 1984; 36:123-30.
6. Robinson WP, Binkert F, Bernasconi F, et al. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 1995;56:4444-51.
7. Strain L, Dean JCS, Hamilton MPR, et al. A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization. N Engl J Med 1998;338:166-9.
8. Giltay JC, Brunt T, Beemer FA, et al. Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/ 46,XY hermaphrodite. Am J Hum Genet 1998;62:937-40.
9. Niu DM, Pan CC, Lin CY, et al. Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite. J Pediatr 2002;140:732-5.
10. Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 1997;17:1299-311.
11. Chen CP, Chern SR, Sheu JC, et al. Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenat Diagn 2005;25:502-6.
12. Schreck RR, Falik-Borenstein Z, Hirata G. Chromosomal mosaicism in chorionic villus sampling. Clin Perinatol 1990; 17:867-88.
13. DeWald G, Haymond MW, Spurbeck JL, et al. Origin of chi 46,XX/46,XY chimerism in a human true hermaphrodite. Science 1980;207:321-3.
14. van Dijk BA, Boomsma DI, de Man AJM. Blood group chimerism in human multiple births is not rare. Am J Med Genet 1996;61:264-8.
15. Cunningham FG, Gant NF, Leveno KJ, et al. Multifetal pregnancy. In: Cunningham FG, Gant NF, Leveno KJ, et al, eds. Williams Obstetrics, 21st edition. New York: McGraw-Hill, 2001:765-810.
16. Farag TI, Al-Awadi SA, Tippett P, et al. Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism. J Med Genet 1987;24:784-6.
17. Sudik R, Jakubiczka S, Nawroth F, et al. Chimerism in a fertile woman with 46,XY karyotype and female phenotype. Hum Reprod 2001;16:56-8.
18. Worton RG, Stern R. A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 1984;4:131-44.
19. Hsu LYF, Benn PA. Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenat Diagn 1999;19:1081-2.