Are all phenotypically-normal Turner syndrome fetuses mosaics?
作者： A. AMIEL , D. KIDRON , I. KEDAR , E. GABER , O. REISH
DOI: 10.1002/(SICI)1097-0223(199609)16:9<791::AID-PD944>3.0.CO;2-3
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摘要: Cytogenetic and fluorescent in situ hybridization (FISH) studies were performed on several formalin-fixed tissues obtained from four fetuses diagnosed at amniocentesis as 45,XO-Turner syndrome. Three of the phenotypically normal one had malformations. The three cases found to have an additional cell line, which may explain their ability survive, least time pregnancy termination well into second trimester. abnormal 45,XO fetus was not be mosaic all examined. In no malformation is detected, possibility mosaicism should raised thus counselling modified accordingly.
sci-hub.se 参考文章(17)
E A Werder, A A Schinzel, I Lorda-Sanchez, W P Robinson, F Binkert, F Bernasconi, Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. American Journal of Human Genetics. ,vol. 56, pp. 444- 451 ,(1995)
F Benham, T Hassold, M Leppert, Cytogenetic and molecular analysis of sex-chromosome monosomy. American Journal of Human Genetics. ,vol. 42, pp. 534- 541 ,(1988)
E B Hook, B B Topol, P K Cross, The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. American Journal of Human Genetics. ,vol. 45, pp. 855- 861 ,(1989)
Christine M. Disteche, Escape from X inactivation in human and mouse Trends in Genetics. ,vol. 11, pp. 17- 22 ,(1995) , 10.1016/S0168-9525(00)88981-7
Tsutomu Ogata, Nobutake Matsuo, Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Human Genetics. ,vol. 95, pp. 607- 629 ,(1995) , 10.1007/BF00209476
AngelinaZ. Novak, GeorgeK. Kokai, VeraP. Popovic, MilenaD. Ludoski, VladimirA. Jurukovski, Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism Human Genetics. ,vol. 95, pp. 293- 298 ,(1995) , 10.1007/BF00225196
A. Amiel, F. Gaber, Y. Manor, M. Fejgin, N. Joseph-Lerner, M. Ravid, M. Lishner, Fluorescence in situ hybridization for the detection of trisomies 8 and 9 in polycythemia vera. Cancer Genetics and Cytogenetics. ,vol. 79, pp. 153- 156 ,(1995) , 10.1016/0165-4608(94)00139-3
Tracy A. Cowles, Frederick F. B. Elder, Suzanne Taylor, Identification of abnormal chromosomal complement in formalin‐fixed, paraffin‐embedded placental tissue Prenatal Diagnosis. ,vol. 15, pp. 21- 26 ,(1995) , 10.1002/PD.1970150106
P. A. JACOBS, P. R. BETTS, A. E. COCKWELL, J. A. CROLLA, M. J. MACKENZIE, D. O. ROBINSON, S. A. YOUINGS, A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Annals of Human Genetics. ,vol. 54, pp. 209- 223 ,(1990) , 10.1111/J.1469-1809.1990.TB00379.X
B TRASK, Fluorescence in situ hybridization: applications in cytogenetics and gene mapping Trends in Genetics. ,vol. 7, pp. 149- 154 ,(1991) , 10.1016/0168-9525(91)90378-4