28.02.2013 Views

The Principles of Clinical Cytogenetics - Extra Materials - Springer

The Principles of Clinical Cytogenetics - Extra Materials - Springer

The Principles of Clinical Cytogenetics - Extra Materials - Springer

SHOW MORE
SHOW LESS

Create successful ePaper yourself

Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.

538 Jin-Chen Wang<br />

192. Karanjawala, Z.E., Kääriäinen, H., Ghosh, S., et al. (2000) Complete maternal isodisomy <strong>of</strong> chromosome 8 in an<br />

individual with an early-onset ileal carcinoid tumor. Am. J. Med. Genet. 93, 207–210.<br />

193. Benlian, P., Foubert, L., Gagné, E., et al. (1996) Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein<br />

lipase deficiency. Am. J. Hum. Genet. 59, 431–436.<br />

194. Sulisalo, T., Makitie, O., Sistonen, P., et al. (1997) Uniparental disomy in cartilage-hair hypoplasia. Eur. J. Hum.<br />

Genet. 5, 35–42.<br />

195. Tiranti, V., Lamantea, E., Uziel, G., et al. (1999) Leigh syndrome transmitted by uniparental disomy <strong>of</strong> chromosome 9.<br />

J. Med. Genet. 36, 927–928.<br />

196. Wilkinson, T.A., James, R.S., Crolla, J.A., Cockwell, A.E., Campbell, P.L., and Temple, I.K. (1996) A case <strong>of</strong> maternal<br />

uniparental disomy <strong>of</strong> chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat. Diag. 16,<br />

371–374.<br />

197. Björck, E.J., Anderlid, B.-M., and Blennow, E. (1999) Maternal isodisomy <strong>of</strong> chromosome 9 with no impact on the<br />

phenotype in a woman with two isochromosomes: i(9p) and i(9q). Am. J. Med. Genet. 87, 49–52.<br />

198. Jones, C., Booth, C., Rita, D., et al. (1995) Identification <strong>of</strong> a case <strong>of</strong> maternal uniparental disomy <strong>of</strong> chromosome 10<br />

associated with confined placental mosaicism. Prenat. Diag. 15, 843–848.<br />

199. Grundy, P., Telzerow, P., Paterson, M.C., Habier, D., Berman, B., Li, F., and Garber, J. (1991) Chromosome 11 uniparental<br />

isodisomy predisposing to embryonal neoplasms. Lancet 338, 1079–1080 (letter).<br />

200. Webb, A., Beard, J., Wright, C., Robson, S., Wolstenholme, J., and Goodship, J. (1995) A case <strong>of</strong> paternal uniparental<br />

disomy for chromosome 11. Prenat. Diag. 15, 773–777.<br />

201. Dutly, F., Baumer, A., Kayserili, H., et al. (1998) Seven cases <strong>of</strong> Wiedemann–Beckwith syndrome, including the first<br />

reported case <strong>of</strong> mosaic paternal isodisomy along the whole chromosome 11. Am. J. Med. Genet. 79, 347–353.<br />

202. von Eggeling, F., Hoppe, C., Bartz, U., et al. (2002) Maternal uniparental disomy 12 in a healthy girl with a<br />

47,XX,+der(12)(:p11(q11:)/46,XX karyotype. J. Med. Genet. 39, 519–521.<br />

203. Slater, H., Shaw, J.H., Dawson, G., Bankier, A., and Forrest, S.M. (1994) Maternal uniparental disomy <strong>of</strong> chromosome<br />

13 in a phenotypically normal child. J. Med. Genet. 31, 644–646.<br />

204. Stallard, R., Krueger, S., James, R.S., and Schwartz, S. (1995) Uniparental isodisomy 13 in a normal female due to<br />

transmission <strong>of</strong> a maternal t(13q13q). Am. J. Med. Genet. 57, 14–18.<br />

205. Slater, H., Shaw, J.H., Bankier, A., Forrest, S.M., and Dawson, G. (1995) UPD 13: no indication <strong>of</strong> maternal or paternal<br />

imprinting <strong>of</strong> genes on chromosome 13. J. Med. Genet. 32, 493.<br />

206. Jävela, I., Savukoski, M., Ämmälä, P., and Von Koskull, H. (1998) Prenatally detected paternal uniparental chromosome<br />

13 isodisomy. Prenat. Diagn. 18, 1169–1173.<br />

207. Berend, S.A., Feldman, G.L., McCaskill, C., Czarnecki, P., Van Dyke, D.L., and Shaffer, L.G. (1999) Investigation <strong>of</strong><br />

two cases <strong>of</strong> paternal disomy 13 suggests timing <strong>of</strong> isochromosome formation and mechanisms leading to uniparental<br />

disomy. Am. J. Med. Genet. 82, 275–281.<br />

208. Soler, A., Margarit, E., Queralt, R., et al. (2000) Paternal isodisomy 13 in a normal newborn infant after trisomy rescue<br />

evidenced by prenatal diagnosis. Am. J. Med. Genet. 90, 291–293.<br />

209. Hordijk, R., Wierenga, H., Scheffer, H., Leegte, B., H<strong>of</strong>stra, R.M.W., and Stolte-Dijkstra, I. (1999) Maternal uniparental<br />

disomy for chromosome 14 in a boy with a normal karyotype. J. Med. Genet. 36, 782–785.<br />

210. Sanlaville, D., Aubry, M.C., Dumez, Y., et al. (2000) Maternal uniparental heterodisomy <strong>of</strong> chromosome 14: chromosomal<br />

mechanism and clinical follow up. J. Med. Genet. 37, 525–528.<br />

211. Temple, I.K., Cockwell, A., Hassold, T., Pettay, D., and Jacobs, P. (1991) Maternal uniparental disomy for chromosome<br />

14. J. Med. Genet. 28, 511–514.<br />

212. Berends, M.J.W., Hordijk, R., Scheffer, H., Oosterwijk, J.C., Halley, D.J.J., and Sorgedrager, N. (1999) Two cases <strong>of</strong><br />

maternal uniparental disomy 14 with a phenotype overlapping with the Prader–Willi phenotype. Am. J. Med. Genet. 84,<br />

76–79.<br />

213. Towner, D.R., Shaffer, L.G., Yang, S.P., and Walgenbach, D.D. (2001) Confined placental mosaicism for trisomy 14<br />

and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin<br />

and third trimester fetal growth restriction. Prenat. Diagn. 21, 395–398.<br />

214. Papenhausen, P.R., Mueller, O.T., Johnson, V.P., Sutcliffe, M., Diamond, T.M., and Kousseff, B.G. (1995) Uniparental<br />

isodisomy <strong>of</strong> chromosome 14 in two cases: an abnormal child and a normal adult. Am. J. Med. Genet. 59, 271–275.<br />

215. Walter, C.A., Shaffer, L.G., Kaye, C.I., et al. (1996) Short-limb dwarfism and hypertrophic cardiomyopathy in a patient<br />

with paternal isodisomy 14: 45,XY,idic(14)(p11). Am. J. Med. Genet. 65, 259–265.<br />

216. Cotter, P.D., Kaffe, S., McCurdy, L.D., Jhaveri, M., Willner, J.P., and Hirschhorn, K. (1997) Paternal uniparental<br />

disomy for chromosome 14: a case report and review. Am. J. Med. Genet. 70, 74–79.<br />

217. McGowan, K.D., Weiser, J.J., Horwitz, J., et al. (2002) <strong>The</strong> importance <strong>of</strong> investigating for uniparental disomy in<br />

prenatally identified balanced acrocentric rearrangements. Prenat. Diagn. 22, 141–143.<br />

218. Kurosawa, K., Sasaki, H., Sato, Y., et al. (2002) Paternal UPD14 is responsible for a distinctive malformation complex.<br />

Am. J. Med. Genet. 110, 268–272.<br />

219. Georgiades, P., Chierakul, C., and Ferguson-Smith, A.C. (1998) Parental origin effects in human trisomy for chromosome<br />

14q: implications for genomic imprinting. J. Med. Genet. 35, 821–824.

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!