The Principles of Clinical Cytogenetics - Extra Materials - Springer

242 Cynthia Powell
172. Keitges, E.A. and Palmer, C.G. (1986) Analysis of the spreading of inactivation in eight X autosome translocations
utilizing the high resolution RBG technique. Hum. Genet. 72, 231–236.
173. Sharp, A.J., Spotswood, H.T., Robinson, D.O., Turner, B.M., and Jacobs, P.A. (2002) Molecular and cytogenetic analysis
of the spreading of X inactivation in X;autosome translocations. Hum. Mol. Genet. 11, 3145–3156.
174. White, W.M., Willard, H.F., Van Dyke, K.L., and Wolff, D.J. (1998) The spreading of X inactivation into autosomal
material of an X;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA. Am.
J. Hum. Genet. 63, 20–28.
175. Kalz-Fuller, B., Sleegers, E., Schwanitz, G., and Schubert, R. (1999) Characterisation, phenotypic manifestations and
X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55, 362–366.
176. Akiyama, M., Kawame, H., Ohashi, H., et al. (2002) Functional disomy for Xq26.3–qter in a boy with an unbalanced
t(X;21)(q26.3;p11.2) translocation. Am. J. Med. Genet. 99, 111–114.
177. Ballabio, A. and Andria, G. (1992) Deletions and translocations involving the distal short arm of the human X chromosome:
review and hypotheses. Hum. Mol. Genet. 1, 221–227.
178. Dunger, D.B., Davies, K.E., Pembrey, M., Lake, B., Pearson, P., and Williams, D. (1986) Deletion on the X chromosome
detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia,
and Duchenne muscular dystrophy. Lancet 1, 585–587.
179. James, R.S., Coppin, B., Dalton, P., et al. (1998) A study of females with deletions of the short arm of the X chromosome.
Hum. Genet. 102, 507–516.
180. Ellison, J.W., Wardak, Z., Young, M.E., Robey, P.G., Laigwebster, M., and Chiong, W. (1997) PHOG, a candidate
gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 6, 1341–1347.
181. Ogata, T., Muroya, K., Matsuo, N., et al. (2001) Turner syndrome and Xp deletions: clinical and molecular studies in 47
patients. 86, 5498–5508.
182. Tharapel, A.T., Anderson, K.P., Simpson, J.L., et al. (1993) Deletion (X)(q26.1 → q28) in a proband and her mother:
molecular characterization and phenotypic-karyotypic deductions. Am. J. Hum. Genet. 52, 463–471.
183. Thomas, N.S. and Huson, S.M. (2001) Atypical phenotype in a female with a large Xp deletion. Am. J. Med. Genet.
104, 81–83.
184. Wolff, D.J., Gustashaw, K.M., Zurcher, V., et al. (1997). Deletions in Xq26.3-q27 including FMR1 result in a severe
phenotype in a male and variable phenotypes in females depending upon the the X inactivation pattern. Hum. Genet.
100, 256–262.
185. Therman, E. and Susman, B. (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human
female: a hypothesis. Hum. Genet. 85, 175–183.
186. Geerkens, C., Just, W., and Vogel W. (1994) Deletions of Xq and growth deficit: a review. Am. J. Med. Genet. 50, 105–113.
187. Maraschio, P., Tupler, R., Barbierato, L., et al. (1996) An analysis of Xq deletions. Hum. Genet. 97, 375–381.
188. Skibsted, L., Westh, H., and Niebuhr, E. (1984) X long arm deletions. A review of non-mosaic cases studied with
banding techniques. Hum. Genet. 67, 1–5.
189. Bernstein, R., Jenkins, T., Dawson, B., et al. (1980) Female phenotype and multiple abnormalities in sibs with a Y chromosome
and partial X chromosome duplication:H-Y antigen and Xg blood group findings. J. Med. Genet. 17, 291–300.
190. Scherer, G., Schempp, W., Baccichetti, C., et al. (1989) Duplication of an Xp segment that includes the ZFX locus
causes sex inversion in man. Hum. Genet. 81, 291–294.
191. Swain, A., Narvaez, V., Burgoyne, P., Camerino, G., and Lovell-Badge, R. Dax1 antagonizes Sry action in mammalian
sex determination. Nature 391, 781–786.
192. Rao, P.N., Klinepeter, K., Stewart, W., Hayworth, R., Grubs, R., and Pettenati, M.J. (1994) Molecular cytogenetic
analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.
Hum. Genet. 94, 149–153.
193. Wyandt, H.E., Bugeau-Michaud, L., Skare, J.C., and Milunsky, A. (1991) Partial duplication of Xp: a case report and
review of previously reported cases. Am. J. Med. Genet. 40, 280–283.
194. Portnoi, M.F., Bouayed-Abdelmoula, N., Mirc, M., et al. (2000) Molecular cytogenetic analysis of a duplication Xp in
a female with an abnormal phenotype and random X inactivation. Clin. Genet. 58, 116–122.
195. Matsuo, M., Muroya, K., Kosaki, K., et al. (1999) Random X-inactivation in a girl with duplication Xp11.21-p21.3:
Report of a patient and review of the literature. Am. J. Med. Genet. 86, 44–50.
196. Tuck-Muller, C.M., Martinez, J.E., Batista, D.A., Kearns, W.G., and Wertelecki, W. (1993) Duplication of the short
arm of the X chromosome in mother and daughter. Hum. Genet. 91, 395–400.
197. Ogata, T., Kosho, T., Wakui, K., Fukushima, Y., Yoshimoto, M., and Miharu, N. (2000) Short stature homeoboxcontaining
gene duplication on the der(X) chromosome in a female with 45,X/46,X,der(X), gonadal dysgenesis, and
tall stature. J. Clin. Endocrinol. Metab. 85, 2927–2930.
198. Adamson, K.A., Cross, I., Batch, J.A., Rappold, G.A., Glass, I.A., and Ball, S.G. (2002) Trisomy of the short stature
homeobox-containing gene (SHOX) resulting from a duplication-deletion of the X chromosome. Clin. Endocrinol. 56,
671–675.
199. Aughton, D.J., AlSaadi, A.A., Johnson, J.A., Transue, D.J., and Trock, G.L. (1993) Dir dup(X)(q13 → qter) in a girl with
growth retardation, microcephaly, developmental delay, seizures, and minor anomalies. Am. J. Med. Genet. 46, 159–164.