Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues

Prenatal Diagnosis

Volumn 18, Issue 9, 1998, Pages 975-978

  Hansson, K ^a,b   Poelma, W M J ^a   Zondervan, H A ^a   Leschot, N J ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Amniocentesis; Monosomy X; Mosaicism; Trisomy 15

Indexed keywords

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CHROMOSOME 15; FEMALE; FETUS; HUMAN; HUMAN TISSUE; KARYOTYPE; MONOSOMY X; MOSAICISM; PREGNANCY TERMINATION; PRIORITY JOURNAL; TRISOMY;

ADULT; AMNIOCENTESIS; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 15; CORDOCENTESIS; FEMALE; FETAL BLOOD; GESTATIONAL AGE; HUMANS; KARYOTYPING; LYMPHOCYTES; MONOSOMY; MOSAICISM; PREGNANCY; TRISOMY; X CHROMOSOME;

EID: 0031758750     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199809)18:9<975::AID-PD381>3.0.CO;2-I     Document Type: Article

References (20)

1. Bennett, C.P., Davis, T., Seller, M.J. (1992). Trisomy 15 mosaicism in an IVF fetus, J. Med. Genet., 29, 745-746.
2. Chang, H.J., Dawn Clark, R., Bachman, H. (1990). The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases, Am. J. Hum. Genet., 46, 156-167.
3. Christian, S.L., Smith, A.C.M., Macha, M., Black, S.H., Elder, F.F.B., Johnson, J.M.-P., Resta, R.G., Surti, U., Suslak, L., Verp, M.S., Ledbetter, D.H. (1996). Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism, Prenat. Diagn., 16, 323-332.
4. Fryns, J.P., Kleczkowska, A., Lagae, L., Kenis, H., Van Den Berghe, H. (1993). A specific phenotype associated with trisomy 15 mosaicism, Ann. Genet., 36, 129-131.
5. Gimelli, G., Cuoco, C., Porro, E. (1983). Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX, + 15 mosaic, Prenat. Diagn., 3, 75-79.
6. Gosden, C., Nicolaides, K.H., Rodeck, C.H. (1988). Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture, Lancet, i, 613-617.
7. Hsu, L.Y.F. (1989). Prenatal diagnosis of 45,X/46,XY mosaicism - a review and update, Prenat. Diagn., 9, 31-48.
8. Hsu, L.Y.F (1992). Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky, A. (Ed.). Genetic Disorders and the Fetus. Diagnosis, Prevention, and Treatment, 3rd edn., Johns Hopkins University Press, 155-210.
9. Hsu, L.Y.F., Kaffe, S., Jenkins, E.C., Alonso, L., Benn, P.A., David, K., Hirschhorn, K., Lieber, E., Shanske, A., Shapiro, L.R., Schutta, E., Warburton, D. (1992). Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies, Prenat. Diagn., 12, 555-573.
10. Hsu, L.Y.F., Yu, M.-T., Neu, R.L., van Dyke, D.L., Benn, P.A., Bradshaw, C.L., Shaffer, L.G., Higgins, R.R., Khodr, G.S., Morton, C.C., Wang, H., Brothman, A.R., Chadwick, D., Disteche, C.M., Jenkins, L.S., Kalousek, D.K., Pantzar, T.J., Wyatt, P. (1997). Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations, Prenat. Diagn., 17, 201-242.
11. Lahdetie, J., Lakkala, T. (1992). Mosaic trisomy 15 found at amniocentesis, Prenat. Diagn., 12, 551-552.
12. Markovic, V.D., Chitayat, D.A., Ritchie, S.M., Chodakowski, B.A., Hutton, E.M. (1996). Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review, Am. J. Med. Genet., 61, 363-370.
13. Milunsky, J.M., Wyandt, H.E., Amos, J.A., Kang, Z., Huang, X.L., Elias, E., Milunsky, A. (1994). Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant, Am. J. Hum. Genet., 55, A112.
14. Milunsky, J.M., Wyandt, H.E., Huang, X.-L., Kang, X.-Z., Elias, E.R., Milunsky, A. (1996). Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant, Am. J. Med. Genet., 61, 269-273.
15. Rocklin, M.L., Elder, F.F.B., Ledbetter, D.H., Christian, S., Huang, B., Rosenberg, H., Sheppard, C., Wilkins, I. (1994). True fetal trisomy 15 mosaicism with maternal uniparental disomy, Am. J. Hum. Genet., 55, A286.
16. Sundberg, K., Brocks, V., Ramsoe Jacobsen, J., Beck, B. (1994). True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography, Prenat. Diagn., 14, 559-563.
17. von Koskull, H., Ritvanen, A., Ammala, P., Gahmberg, N., Salonen, R. (1989). Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample, Prenat. Diagn., 9, 433-437.
18. Wheeler, M., Peakman, D., Robinson, A., Henry, G. (1988). 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis, Am. J. Med. Genet., 29, 565-571.
19. Wyandt, H.E., Maher, T., Fisher, N.L., Patil, S.R., Osella, P., Luthardt, F.W., Kawada, C., Williamson, R., Milunsky, A. (1990). Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection, Prenat. Diagn., 10, 569-574.
20. Zaslav, A.L., Fallet, S., Ebert, R., Fleischer, A., Valderrama, E., Fox, J.E. (1996). Prenatal diagnosis of low level trisomy 15 mosaicism, Am. J. Hum. Genet., 59, A137.