Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis - Uniparental disomy and the significance of residual trisomy 15

Prenatal Diagnosis

Volumn 17, Issue 2, 1997, Pages 109-113

  Slater, Howard R ^a   Vaux, Cathryn ^a   Pertile, Mark ^b   Burgess, Trent ^a   Petrovic, Vida ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL WOMEN'S HOSPITAL   (Australia)

Author keywords

DNA methylation analysis; Mosaic trisomy 15; Timing of trisomic rescue

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 15; DNA METHYLATION; DNA PROBE; FEMALE; HUMAN; HUMAN TISSUE; KARYOTYPE; MOSAICISM; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN; TISSUE CULTURE; TRISOMY; TRISOMY 15; UNIPARENTAL DISOMY;

ADULT; AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; HUMANS; KARYOTYPING; MATERNAL AGE; MOSAICISM; PRADER-WILLI SYNDROME; PREGNANCY; PREGNANCY, HIGH-RISK; PRENATAL DIAGNOSIS; TRISOMY;

POMACANTHUS MACULOSUS;

EID: 0031043334     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199702)17:2<109::AID-PD36>3.0.CO;2-2     Document Type: Article

References (16)

1. Cassidy, S.B., Lai, L.-W., Erickson, R.P., Magnuson, L., Thomas, E., Gendron, R., Hermann, J. (1992). Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy, Am. J. Hum. Genet., 51, 701-708.
2. Christian S.L., Smith, A.C.M., Macha, M., Black, S.H., Elder, F.F.B., Johnson, J.M.-P., Resta, R.G., Rocklin,. M.L., 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.
3. Dittrich, B., Buiting, K., Grob, S., Horsthemke, B. (1993). Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region, Hum. Mol. Genet., 2, 1995-1999.
4. Gillessen-Kaesbach, G., Gross, S., Kaya-Westerloh, E.P., Horsthemke, B. (1995a). DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome, J. Med. Genet., 32, 88-92.
5. Gillessen-Kaesbach, G., Robinson, W., Lohmann, D., Kaya-Westerloh, S., Passarge, E., Horsthemke, B. (1995b). Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome, Hum. Genet., 96, 638-643.
6. Ledbetter, D.H., Engel, E. (1995). Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis, Hum. Mol. Genet., 4, 1757-1764.
7. Mascari, M.J., Gottlieb, W., Rogan, P., Butler, M.G., Armour, J., Jeffreys, A., Waller, D., Ladda, R., Nicholls, R.D. (1992). The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis, N. Engl. J. Med., 326, 1599-1607.
8. Morichon-Delvallez, N., Mussat, P., Dumez, Y., Vekemans, M. (1993). Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth (letter), Prenat. Diagn., 13, 307-308.
9. Nicholls, R.D. (1993). Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: a review, Am. J. Med. Genet., 46, 16-25, 48-49.
10. Purvis-Smith, S.G., Saville, T., Manass, S., Yip, M.-Y., Lam-Po-Tang, P.R.L., Duffy, B., Johnson, H., Leigh, D., McDonald, B. (1992). Uniparental disomy 15 resulting from 'Correction' of an initial trisomy 15, Am. J. Hum. Genet., 50, 1348-1350.
11. Robinson, W.P., Bottani, A., Yagang, X., Balkrishman, J., Binkert, F., Machler, M., Prader, A., Shinzel, A. (1991). Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients, Am. J. Hum. Genet., 49, 1219-1234.
12. Rooney, D.E., Czepulkowski, B.H. (Eds) (1992). Prenatal diagnosis and tissue culture. In: Human Cytogenetics, New York: Oxford University Press, 55-89.
13. Saiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.A. (1980). Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase, Science, 239, 487-491.
14. Schultze, A., Hansen, C., Skakkebaek, N.E., Brondum-Nielsen, K., Ledbetter, D.H., Tommerup, N. (1996). Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint, Nature Genet., 12, 452-454.
15. Sun, Y., Nicholls, R.D., Butler, M.G., Saitoh, S., Hainline, B.E., Palmer, C.G. (1996). Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient, Hum. Mol. Genet., 5, 517-524.
16. Surh, L.C., Wang, H., Hunter, A.G.W. (1994). Deletion and uniparental disomy involving the same maternal chromosome 15, N. Engl. J. Med., 330, 572-573.