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The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Autosomal Aneuploidy 159<br />

110. Lindor, N.M., Jalal, S.M., Thibodeau, S.N., Bonde, D., Sauser, K.L., and Karnes, P.S. (1993) Mosaic trisomy 16 in a<br />

thriving infant: maternal heterodisomy for chromosome 16. Clin. Genet. 44, 185–189.<br />

111. Garber, A., Carlson, D., Schreck, R., et al. (1994) Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.<br />

Prenat. Diagn. 14, 257–266.<br />

112. Pletcher, B.A., Sanz, M.M., Schlessel, J.S., et al. (1994) Postnatal confirmation <strong>of</strong> prenatally diagnosed trisomy 16<br />

mosaicism in two phenotypically abnormal liveborns. Prenat. Diagn. 14, 933–940.<br />

113. Hajianpour, M.J. (1995) Postnatally confirmed trisomy 16 mosaicism: follow-up on a previously reported patient.<br />

Prenat. Diagn. 15, 877–879.<br />

114. Hsu, WT., Shchepin, D.A., Mao, R., et al. (1998) Mosaic trisomy 16 ascertained through amniocentesis: evaluation <strong>of</strong><br />

11 new cases. Am. J. Med. Genet. 80, 473–480.<br />

115. Hsu, L.Y.F., Kaffe, S., and Perlis, T.E. (1991) A revisit <strong>of</strong> trisomy 20 mosaicism in prenatal diagnosis—an overview <strong>of</strong><br />

103 cases. Prenat. Diagn. 11, 7–15.<br />

116. Miny, P., Karabacak, Z., Hammer, P., Schulte-Vallentin, M., and Holzgreve, W. (1989) Chromosome analyses from<br />

urinary sediment: postnatal confirmation <strong>of</strong> a prenatally diagnosed trisomy 20 mosaicism. New Engl. J. Med. 320, 809.<br />

117. Park, J.P., Moeschler, J.B., Rawnsley, E., Berg, S.Z., and Wurster-Hill, D.H. (1989) Trisomy 20 mosaicism confirmed<br />

in a phenotypically normal liveborn Prenat. Diagn. 9, 501–504.<br />

118. Van Dyke, D.L., Roberson, J.R., Babu, V.R., Weiss, L., and Tyrkus, M. (1989) Trisomy 20 mosaicism identified<br />

prenatally and confirmed in foreskin fibroblasts. Prenat. Diagn. 9, 601–602.<br />

119. Brothman, A.R., Rehberg, K., Storto, P.D., Phillips, S.E., and Mosby, R.T. (1992) Confirmation <strong>of</strong> true mosaic trisomy<br />

20 in a phenotypically normal liveborn male. Clin. Genet. 42, 47–49.<br />

120. Warren, N.S., Soukup, S., King, J.L., and Dignan, P. S.J. (2001) Prenatal diagnosis <strong>of</strong> trisomy 20 by chorionic villus<br />

sampling (CVS): a case report with long-term outcome. Prenat. Diagn. 21, 1111–1113.<br />

121. Baty, B.J., Olson, S.B., Magenis, R.E., and Carey, J.C. (2001) Trisomy 20 mosaicism in two unrelated girls with skin<br />

hypopigmentation and normal intellectual development. Am. J. Med. Genet. 99, 210–216.<br />

122. Hsu, L.Y.F., Kaffe, S., and Perlis, T.E. (1987) Trisomy 20 mosaicism in prenatal diagnosis—a review and update.<br />

Prenat. Diagn. 7, 581–596.<br />

123. Punnett, H.H. and Kistenmacher, M.L. (1990) Confirmation <strong>of</strong> prenatally ascertained trisomy 20 mosaicism. Prenat.<br />

Diagn. 10, 136–137.<br />

124. Hsu, L.Y.F., Shapiro, L.R., Gertner, M., Lieber, E., and Hirschhorn, K. (1971) Trisomy 22: a clinical entity. J. Pediatr.<br />

79, 12–19.<br />

125. Bacino, C.A., Schreck, R., Fischel-Ghodsian, N., Pepkowitz, S., Prezant, T.R., and Graham, J.M., Jr. (1995) <strong>Clinical</strong><br />

and molecular studies in full trisomy 22: further delineation <strong>of</strong> the phenotype and review <strong>of</strong> the literature. Am. J. Med.<br />

Genet. 56, 359–365.<br />

126. Hirschhorn, K., Lucas, M., and Wallace, I. (1973) Precise identification <strong>of</strong> various chromosomal abnormalities. Ann.<br />

Hum. Genet. 36, 375–379.<br />

127. Pridjian, G., Gill, W.L., and Shapira, E. (1995) Goldenhar sequence and mosaic trisomy 22. Am. J. Med. Genet. 59,<br />

411–413.<br />

128. Ladonne, J., Gaillard, D., Carre-Pigeon, F., and Gabriel, R. (1996) Fryns syndrome phenotype and trisomy 22. Am. J.<br />

Med. Genet. 61, 68–70.<br />

129. Crowe, C.A., Schwartz, S., Black, C.J., and Jaswaney, V. (1997) Mosaic Trisomy 22: a case presentation and literature<br />

review <strong>of</strong> trisomy 22 phenotypes. Am. J. Med. Genet. 71, 406–413.<br />

130. Robinson, W.P. and Kalousek, D.K. (1996) Mosaicism most likely accounts for extended survival <strong>of</strong> trisomy 22. Am. J.<br />

Med. Genet. 62, 100.<br />

131. Kukolich, M.K., Kulharya, A., Jalal, S.M., and Drummond-Borg, M. (1989) Trisomy 22: no longer an enigma. Am. J.<br />

Med. Genet. 34, 541–544.<br />

132. Sago, H., Chen, E., Conte, W.J., Cox, V.A., Goldberg, J.D., Lebo, R.V., and Golabi, M. (1997) True trisomy 2 mosicism<br />

in amniocytes and newborn liver associated with multiple system abnormalities. Am. J. Med. Genets. 72, 343–346.<br />

133. Casey, J., Ketterer, D.M., Heisler, K.L., Daugherty, E.A., Prince, P.M., and Giles, H.R. (1990) Prenatal diagnosis <strong>of</strong><br />

trisomy 2 mosaicism confirmed in foreskin fibroblasts. Am. J. Hum. Genet. 47, A270.<br />

134. Metaxotou, C., Tsenghi, C., Bitzos, I., Strataki-Benetou, M., Kalpini-Mavrou, A., and Matsaniotis, N. (1981) Trisomy<br />

3 mosaicism in a live-born infant. Clin. Genet. 19, 37–40.<br />

135. Smith, S.C., Varela, M., Toebe, C., and Shapira, E. (1988) Trisomy 3 mosaicism: a case report. Am. J. Hum. Genet. 43, A71.<br />

136. Marion, J.P., Fernh<strong>of</strong>f, P.M., Korotkin J., and Priest, J.H. (1990) Pre- and postnatal diagnosis <strong>of</strong> trisomy 4 mosaicism.<br />

Am. J. Med. Genet. 37, 362–365.<br />

137. Sciorra, L.J., Hux, C., Day-Salvadore, D., et al. (1992) Trisomy 5 mosaicism detected prenatally with an affected<br />

liveborn. Prenat. Diagn. 12, 477–482.<br />

138. Miller, K.R., Muhlhaus, K., Herbst, R.A., Bohnhorst, B., Bohmer, S., and Arslan-Kirchner, M. (2001) Patient with<br />

trisomy 6 mosaicism. Am. J. Med. Genet. 100, 103–105.<br />

139. Magenis, E., Webb, M.J., Spears, B., and Opitz, J.M. (1999) Blaschkolinear malformation syndrome in complex trisomy-7<br />

mosaicism. Am. J. Med. Genet. 87, 375–383.

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