Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization

被引:19
作者
Blanco, J [1 ]
Farreras, A [1 ]
Egozcue, J [1 ]
Vidal, F [1 ]
机构
[1] Univ Autonoma Barcelona, Unitat Biol Cellular, Bellaterra 08193, Spain
关键词
fluorescence in situ hybridization; ring Y chromosome; aneuploidy; meiosis; interchromosomal effects;
D O I
10.1016/S0015-0282(02)04931-2
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To determine the meiotic behavior of a ring Y chromosome in a semen sample from a 45,X/46,X,r(Y)/46,X,dic r(Y) patient and the possible interchromosomal effects of the ring on other chromosome pairs. Design: Retrospective analysis. Setting: Universitat Autonoma de Barcelona. Patient: An oligoasthenoteratozoospermic patient who presented for infertility consultation. Main Outcome Measure(s): The sex chromosome content of spermatogenic cells, meiotic figures, and spermatozoa in the ejaculate and the possible interchromosomal effects on chromosomes 13, 18, and 21 were analyzed by using multicolor fluorescence in situ hybridization. Germ-cell aneuploidies were scored. Result(s): X0 cells are meiotically incompetent. All meiotic figures were exclusively XY, and 80% showed unpaired sex chromosomes. A high proportion of postreductional cells were XY (45.5%) or nullisomic for sex chromosomes (13.92%). This percentage decreased in spermatozoa to 14.89% and 27.66%, respectively. A statistically significant increase in X-bearing versus Y-bearing cells both in postreductional cells (23.9% vs. 14.3%) and spermatozoa (41.9% vs. 19.3%) was also observed. Evidence for an interchromosomal effect on chromosome 21 was detected. Conclusion(s): Data suggest that this patient had a generalized increase incidence of chromosome anomalies, underscoring the importance of incorporating screening for sperm aneuploidies in genetic analysis of affected patients. (C) 2003 by American Society for Reproductive Medicine.
引用
收藏
页码:913 / 918
页数:6
相关论文
共 24 条
[11]   Diploid sperm and the origin of triploidy [J].
Egozcue, S ;
Blanco, J ;
Vidal, F ;
Egozcue, J .
HUMAN REPRODUCTION, 2002, 17 (01) :5-7
[12]   THE EFFECTS OF A RING CHROMOSOME ON THE MEIOTIC SEGREGATION OF OTHER CHROMOSOMES IN SACCHAROMYCES-CEREVISIAE [J].
FLATTERS, M ;
MAXFIELD, R ;
DAWSON, D .
MOLECULAR & GENERAL GENETICS, 1995, 249 (03) :309-316
[13]  
FORD EH, 1973, HUMAN CHROMOSOMES LO
[14]   THE FATE OF XO GERM-CELLS IN THE TESTES OF XO/XY AND XO/XY/XYY MOUSE MOSAICS - EVIDENCE FOR A SPERMATOGENESIS GENE ON THE MOUSE Y-CHROMOSOME [J].
LEVY, ER ;
BURGOYNE, PS .
CYTOGENETICS AND CELL GENETICS, 1986, 42 (04) :208-213
[15]   ROLE OF X-CHROMOSOME INACTIVATION DURING SPERMATOGENESIS [J].
LIFSCHYTZ, E ;
LINDSLEY, DL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (01) :182-+
[16]   In situ end-labeling of human testicular tissue demonstrates increased apoptosis in conditions of abnormal spermatogenesis [J].
Lin, WW ;
Lamb, DJ ;
Wheeler, TM ;
Lipshultz, LI ;
Kim, ED .
FERTILITY AND STERILITY, 1997, 68 (06) :1065-1069
[17]   Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors [J].
Mroz, K ;
Hassold, TJ ;
Hunt, PA .
HUMAN REPRODUCTION, 1999, 14 (05) :1151-1156
[18]   Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia [J].
Newberg, MT ;
Francisco, RG ;
Pang, MG ;
Brugo, S ;
Doncel, GF ;
Acosta, AA ;
Hoegerman, SF ;
Kearns, WG .
FERTILITY AND STERILITY, 1998, 69 (01) :146-148
[19]  
Organisation WH, 1992, WHO LAB MAN EX HUM S
[20]  
Pandiyan N, 1996, HUM REPROD, V11, P2604