Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)
作者： Paul Petit , Carl Hilliker , Fred Leuven , Jean-Pierre Fryns
DOI: 10.1111/J.1399-0004.1994.TB04165.X
关键词: Endocrinology 、 X autosome translocation 、 Monosomy 、 Telomere 、 Biology 、 X chromosome 、 Mild phenotype 、 Phenotype 、 Internal medicine 、 Daughter 、 Molecular biology 、 Trisomy
摘要: In this report we describe the mild phenotypic manifestations and normal gonadal function in a 50-year-old mother her 17-year-old daughter with 4p trisomy resulting from an unbalanced t(X;4)(p22.1;p14) mat. Late replication of der(X) was demonstrated by BrdU incorporation spreading late to portion as explanation reduced effect 4p/monosomy Xp on physical secondary sexual development both patients.
sci-hub.se 参考文章(8)
Claudette Hajaj Gonzalez, Annemarie Sommer, Lorraine F. Meisner, B. Rafael Elejalde, John M. Opitz, U. Francke, The trisomy 4p syndrome: case report and review. American Journal of Medical Genetics. ,vol. 1, pp. 137- 156 ,(1977) , 10.1002/AJMG.1320010202
PAUL G. KRATZER, STANLEY M. GARTLER, HGPRT activity changes in preimplantation mouse embryos. Nature. ,vol. 274, pp. 503- 504 ,(1978) , 10.1038/274503A0
Christine M. Disteche, Karen Swisshelm, S. Forbes, Roberta A. Pagon, X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Human Genetics. ,vol. 66, pp. 71- 76 ,(1984) , 10.1007/BF00275190
Edward T. Bersu, Jose L. Ramirez-Castro, James C. Pettersen, Anatomical analysis of the developmental effects of aneuploidy in man--the 18-trisomy syndrome: I. Anomalies of the head and neck. American Journal of Medical Genetics. ,vol. 1, pp. 173- 193 ,(1977) , 10.1002/AJMG.1320010204
Beverley Hamer, Simon Roth, Mary Lucas, Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16). Clinical Genetics. ,vol. 38, pp. 121- 125 ,(2008) , 10.1111/J.1399-0004.1990.TB03559.X
J. P. Fryns, A. Kleczkowska, P. Petit, H. Berghe, Fertility in patients with X chromosome deletions. Clinical Genetics. ,vol. 22, pp. 76- 79 ,(2008) , 10.1111/J.1399-0004.1982.TB01416.X
A. Kleczkowska, J. P. Fryns, L. Vinken, H. van den Berghe, Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients. Clinical Genetics. ,vol. 27, pp. 147- 152 ,(2008) , 10.1111/J.1399-0004.1985.TB00202.X
H. Van Den Berghe, A. Kleczkowska, J. P. Fryns, Trisomy of the short arm of chromosome 4: the changing phenotype with age. Annales De Genetique. ,vol. 35, pp. 217- 223 ,(1992)