The Principles of Clinical Cytogenetics - Extra Materials - Springer

Genomic Imprinting and Uniparental Disomy 539
220. Sutton, V.R., and Shaffer, L.G. (2000) Search for imprinted regions on chromosome 14: comparison of maternal and
paternal UPD cases with cases of chromosome 14 deletion. Am. J. Med. Genet. 93, 381–387.
221. Cox, D.W., Gedde-Dahyl, T., Menon, A.G., et al. (1995) Report of the second international workship on human chromosome
14 mapping 1994. Cytogenet. Cell Genet. 69, 159–174.
222. Cattanach, B.M., Barr, J., and Jones, J. (1995) Use of chromosome rearrangements for investigations into imprinting in
the mouse. In Genomic Imprinting, Causes and Consequences. (Ohlsson, R., Hall, K., and Ritzen M., eds.), Cambridge
University Press, Cambridge, pp. 327–341.
223. Mitchell, J., Schinzel, A., Langlois, S., et al. (1996) Comparison of phenotype in uniparental disomy and deletion
Prader–Willi syndrome: sex specific differences. Am. J. Med. Genet. 65, 133–136.
224. Cassidy, S.B., Forsythe, M., Heeger, S., et al. (1997) Comparison of phenotype between patients with Prader–Willi
syndrome due to deletion 15q and uniparental disomy 15. Am. J. Med. Genet. 68, 433–440.
225. Gillessen-Kaesbach, G., Robinson, W., Lohmann, D., Kaya-Westerloh, S., Passarge, E., and Horsthemke, B. (1995)
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader–Willi syndrome.
Hum. Genet. 96, 638–643.
226. Gardner, J.M., Nakatsu, Y., Gondo, Y., et al. (1992) The mouse pink-eyed dilution gene: association with human
Prader–Willi and Angelman syndromes. Science 257, 1121–1124.
227. Rinchik, E.M., Bultman, S.J., Horsthemke, B., et al. (1993) A gene for the mouse pink-eyed dilution locus and for
human type II oculocutaneous albinism. Nature 361, 72–76.
228. Lee, S-T., Nicholls, R.D., Phil, D., et al. (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism,
and Prader–Willi syndrome plus albinism. N. Engl. J. Med. 330, 529–534.
229. Smith, A., Marks, R., Haan, E., Dixon, J., and Trent, R.J. (1997) Clinical features in four patients with Angelman
syndrome resulting from paternal uniparental disomy. J. Med. Genet. 34, 426–429.
230. Prasad, C. and Wagstaff, J. (1997) Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. Genotype
and phenotype in Angelman syndrome caused by paternal UPD 15. Am. J. Med. Genet. 70, 328–329.
231. Fridman, C., Varela, M.C., Kok, F., Diament, A., and Koiffmann, C.P. (2000) Paternal UPD 15: further genetic and
clinical studies in four Angelman syndrome patients. Am. J. Med. Genet. 92, 322–327.
232. Kalousek, D.K., Langlois, S., Barrett, I., et al. (1993) Uniparental disomy for chromosome 16 in humans. Am. J. Hum.
Genet. 52, 8–16.
233. Vaughan, J., Zehra, A., Bower, S., Bennett, P., Chard, T., and Moore, G. (1994) Human maternal uniparental disomy
for chromosome 16 and fetal development. Prenat. Diag. 14, 751–756.
234. Whiteford, M.L., Coutts, J., Al-Roomi, L., et al. (1995) Uniparental isodisomy for chromosome 16 in a growth-retarded
infant with congenital heart disease. Prenat. Diag. 15, 579–584.
235. Schneider, A.S., Bischoff, F.Z., McCaskill, C., Coady, M.L., Stopfer, J.E., and Shaffer, L.G. (1996) Comprehensive
4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am. J. Med. Genet. 66, 204–208.
236. O’Riordan, S., Greenough, A., Moore, G.E., Bennett, P., and Nicolaides, K.H. (1996) Case report: uniparental disomy
16 in association with congenital heart disease. Prenat. Diag. 16, 963–965.
237. Woo, V., Bridge, P.J., and Bamforth, J.S. (1997) Maternal uniparental heterodisomy for chromosome 16: case report.
Am. J. Med. Genet. 70, 387–390.
238. Hsu, W.-T., Shchepin, D.A., Mao, R., et al. (1998) Mosaic trisomy 16 ascertained through amniocentesis: evaluation of
11 new cases. Am. J. Med. Genet. 80, 473–480.
239. Wang, J.-C.C., Mamunes, P., Kou, S.-Y., Schmidt, J., Mao, R., and Hsu, W.-T. (1998) Centromeric DNA break in a
10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy
for chromosome 16. Am. J. Med. Genet. 80, 418–422.
240. Abu-Amero, S.N., Ali, Z., Abu-Amero, K.K., Stanier, P., and Moore, G.E. (1999) An analysis of common isodisomic
regions in five mUPD 16 probands. J. Med. Genet. 36, 204–207.
241. Young, P.J., Marion, S.A., Barrett, I.J., Kalousek, D.K., and Robinson, W.P. (2002) Evidence for imprinting on chromosome
16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies. Am. J. Med. Genet.
112, 123–132.
242. Kohlhase, J., Janssen, B., Weidenauer, K., Harms, K., and Bartels, I. (2000) First confirmed case with paternal uniparental
disomy of chromosome 16. Am. J. Med. Genet. 91, 190–191.
243. Genuardi, M., Tozzi, C., Pomponi, M.G., et al. (1999) Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue
distribution, and uniparental disomy studies. Eur. J. Hum. Genet. 7, 421–426.
244. Chudoba, I., Franke, Y., Senger, G., et al. (1999) Maternal UPD 20 in a hyperactive child with severe growth retardation.
Eur. J. Hum. Genet. 7, 533–540.
245. Salafsky, I.S., MacGregor, S.N., Claussen, U., and von Eggeling, F. (2001) Maternal UPD 20 in an infant from a
pregnancy with mosaic trisomy 20. Prenat. Diagn. 21, 860–863.
246. Eggermann, T., Mergenthaler, S., Eggermann, K., et al. (2001) Identification of interstitial maternal uniparental disomy
(UPD) (14) and complete maternal UPD (20) in a cohort of growth retarded patients. J. Med. Genet. 38, 86–89.
247. Venditti, C.P., Hunt, P., Donnenfeld, A., Zackai, E., and Spinner, N.B. (2004) Mosaic paternal uniparental (iso)disomy
for chromosome 20 associated with multiple anomalies. Am. J. Med. Genet. 124A, 274–279.