Abstract:
BACKGROUNDS:While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans. CASE DESCRIPTION:Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient's age was 35 at the time of referral. Total azoospermia was confirmed on semen analysis. RESULTS:The karyotype of peripheral blood showed 47,XXY,t(1;3;5)(p22;q29;q22). The mother had the same CCRs. DISCUSSION:To our best of our knowledge this is the first case of 47,XXY with CCRs. We think it is important to report such a unique chromosomal occurrence.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Mahjoubi F,Razazian Fdoi
10.1007/s10815-012-9725-ysubject
Has Abstractpub_date
2012-05-01 00:00:00pages
437-41issue
5eissn
1058-0468issn
1573-7330journal_volume
29pub_type
杂志文章,评审abstract:PURPOSE:To investigate the Homeobox genes HOXA-10 and HOXA-11 mediated endometrial molecular defects during implantation window in endometriosis-associated infertility cases. METHODS:Endometrial biopsies were obtained during implantation window from 31 infertile women with endometriosis (age < 35 years) and 26 age and...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0088-9
更新日期:2013-11-01 00:00:00
abstract:PURPOSE:To determine if GV oocytes, collected at the time of ICSI, can be matured in vitro and rescued for therapeutic treatment. A patient for whom all the collected oocytes at the GV stage after a classical COH protocol were matured in vitro with GH. METHOD:All the naked oocytes were matured in a culture medium (ISM...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-9014-0
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:The aim of this study is to provide data on the practice of Luteal Phase Oocyte Retrieval (LuPOR). The authors assess cell-free DNA levels in follicular fluid (ff cfDNA) from poor responders undergoing natural cycles, and comparing it to respective data originating from follicular phase oocyte retrievals. METH...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01743-4
更新日期:2020-05-01 00:00:00
abstract:PURPOSE:The purpose of this study was to examine the biological variability of follicular fluid (FF) high density lipoprotein (HDL) particle components measured in ipsilateral ovarian follicles. METHODS:We collected FF from two ipsilateral follicles among six women undergoing in vitro fertilization (IVF). We measured ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0648-x
更新日期:2016-03-01 00:00:00
abstract:PURPOSE:Histone H3 lysine 9 (H3K9) methylation plays an important role in the regulation of preimplantation embryo development. G9a has been reported to be a major H3K9mono (m1)/dimethylation(m2) methyltransferase and to contain nuclear localization signals. This study was performed to investigate the correlation betwe...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9911-y
更新日期:2013-03-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate the association between two common single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene (-460C/T and +405G/C) and polycystic ovary syndrome (PCOS) risk in south Indian women. METHODS:This study involves clinically confirmed PCOS p...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0310-4
更新日期:2014-10-01 00:00:00
abstract:PURPOSE:To explore the effects of controlled ovarian stimulation (COS) on the expression of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) in oocytes and granulosa cells from patients with or without polycystic ovary syndrome (PCOS). METHODS:This case-control study was conducted in th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0041-y
更新日期:2013-10-01 00:00:00
abstract:PURPOSE:We reported previously on the use of coculture with cumulus cells in insemination medium for the development of human embryos in vitro. Here we describe a prospective trial to determine if this procedure has a significant beneficial effect. METHODS:On the day after insemination, zygotes were randomized for cul...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02068862
更新日期:1996-01-01 00:00:00
abstract:PURPOSE:This study was designed to evaluate patient management and quality of information given by French oncologists to cancer women concerning fertility issues and possibilities of fertility preservation. METHODS:An online survey was sent to 1161 physicians in all major cancer centers throughout France between May 2...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1251-0
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:To study the presence and distribution of genes encoding free radical scavengers in human granulosa cells from primordial and primary ovarian follicles. METHODS:A class comparison study on existing granulosa cell transcriptome from primordial (n = 539 follicles) and primary (n = 261) follicles donated by three...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1240-3
更新日期:2018-10-01 00:00:00
abstract::The original article unfortunately contained a mistake. In the online version of the paper, the words "MII (metaphase II)-PB1 (1st polar body) complex (MII-PB1 complex)" in table 1 are incorrectly placed. ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 已发布勘误
doi:10.1007/s10815-019-01644-1
更新日期:2019-12-01 00:00:00
abstract:PURPOSE:In a retrospective study we have reviewed the data of 570 consecutive IVF cycles in which a GnRH agonist (GnRHa) was started in the early follicular phase (long protocol). Cycles were divided in groups according to estradiol levels before HMG administration: A, < 20 pg/ml; B, 20 to 50 pg/ml; C, 51 to 100 pg/ml....
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02212585
更新日期:1995-10-01 00:00:00
abstract:PURPOSE:This study was designed to compare levels of satisfaction for ovum donors and gestational carriers/surrogates (GCS), investigate attitudes, and explore beliefs about the role genetics, gestation, and environment play in various characteristics. DESIGN:An east coast IVF center and two California-based agencies ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1020306402235
更新日期:2002-10-01 00:00:00
abstract:PURPOSE:To select reference genes with stable messenger RNA (mRNA) expression for quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) analysis of vitrified/thawed human ovarian tissue and to evaluate in human ovarian tissue the levels of key proteins which are commonly used as reference pro...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1263-9
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:Prior studies suggest that pregnancy outcomes after autologous oocyte cryopreservation are similar to fresh in vitro fertilization (IVF) cycles. It is unknown whether there are differences in pregnancy and perinatal outcomes between cryopreserved oocytes and cryopreserved embryos. METHODS:This is a retrospecti...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0995-2
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVE:Our purpose was to determine whether elevated progesterone (P) during ovulation induction in IVF-ET cycles is a poor prognostic factor for achieving pregnancy. DESIGN:We retrospectively reviewed 672 consecutive IVF-ET cycles in which ovulation was performed using luteal LA downregulation and hMG. SETTING:Th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02069639
更新日期:1996-09-01 00:00:00
abstract:PURPOSE:To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHO...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1187-4
更新日期:2018-08-01 00:00:00
abstract:PURPOSE:Our purpose was to determine if pregnancy rates (PRs) for hMG (human menopausal gonadotropin)-stimulated IVF-ET (in vitro fertilization--embryo transfer) can be increased by estradiol (E2) supplementation from the early proliferative phase to the late secretory phase of the endometrium. METHOD:Eighty-one infer...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1009445913156
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:To our knowledge, little is known about the effect of polarized and non-polarized uterine epithelial cells on cryopreserved embryo growth. This study was, therefore, set up to investigate the effect of these monolayers together with sequential culture media on vitrified-warmed mouse embryos in terms of blastocy...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-008-9231-4
更新日期:2008-06-01 00:00:00
abstract:PURPOSE:Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by c...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s10815-011-9633-6
更新日期:2011-11-01 00:00:00
abstract:PURPOSE:The purpose of this study was to investigate the effect of male and female serum supplementation on the in vitro development of mouse embryos beyond the blastocyst stage until the outgrowth stage since the latter may be related to the nidation of the embryo. We also studied the effect of EGF addition on embryo ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02066499
更新日期:1996-11-01 00:00:00
abstract:PURPOSE:This binational qualitative study of medical egg freezing (MEF) examined women's motivations and experiences, including their perceived needs for patient-centered care in the midst of fertility- and life-threatening diagnoses. METHODS:Forty-five women who had undertaken MEF were interviewed in the USA (33 wome...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-1081-5
更新日期:2018-01-01 00:00:00
abstract:PURPOSE:Surgical repair of varicocele has long been a procedure to correct spermatogenesis. However, the outcome has been reported to be inadequate. We combined varicocelectomy with supplement therapy to evaluate the concurrent effect of these procedures. METHODS:A prospective randomized controlled study was undertake...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-013-9961-9
更新日期:2013-04-01 00:00:00
abstract:PURPOSE:Cumulus cells (CC) play important roles in oocyte development and cumulus expressed genes can be used as markers for oocyte quality. This study aimed to investigate temporal changes in the expression of cumulus marker genes during oocyte maturation as possible biomarkers of embryo developmental competence in ov...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0998-z
更新日期:2017-11-01 00:00:00
abstract:PURPOSE:Fertility treatment in women aged ≥40 year old remains difficult and controversial. All available studies in older women report results of one specific method of ART, i.e. IUI, IVF/ICSI or oocyte donation, and success rates are always published per attempt but never per patient. Randomized studies are not avail...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0085-z
更新日期:2013-11-01 00:00:00
abstract:PURPOSE:To investigate the difference of in vitro and in vivo grown oocytes, we compared maturation, fertilization, development, and maternal gene expression from both in vitro and in vivo grown mouse oocytes. METHODS:The preantral follicles isolated from 12-day-old mice were cultured on Transwell-COL membrane inserts...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/b:jarg.0000042008.83699.cc
更新日期:2004-07-01 00:00:00
abstract:PURPOSE:To evaluate the association between phenotype and follicle stimulating hormone receptor (FSHR) genotype in women with ovarian dysfunction and patients with "poor response" to gonadotropin stimulation of ovulation. METHODS:FSHR gene SNPs were analyzed by PCR and RFLP. "Poor responders" (ovarian dysfunction) gro...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-008-9279-1
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:Our goal was to identify and quantitate growth factors and cytokines actively secreted by a permanent human endometrial cell line with embryotrophic properties and to determine if cell lines enhancing embryo development secrete common growth factors and/or cytokines. DESIGN:Culture medium conditioned by this...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02066606
更新日期:1996-08-01 00:00:00
abstract:PURPOSE:To investigate the influence of sperm DNA integrity on the zona binding ability of mouse spermatozoa in relation to their sex chromosomal constitution. METHOD(S):In this prospective experimental study, the sperm DNA fragmentation was induced by exposing testicular area of Swiss Albino mice (Mus musculus) to di...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0123-x
更新日期:2013-12-01 00:00:00
abstract:PURPOSE:The objective of the present study was to evaluate power Doppler of the endometrium as a parameter for the prognosis of embryo implantation in patients who underwent intracytoplasmic sperm injection (ICSI). METHODS:The power Doppler was performed on a transverse section at the level of the uterine fundus on th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009405128160
更新日期:2000-07-01 00:00:00