当前位置： SCI文献检索 > JOURNAL OF ASSISTED REPRODUCTION AND GENETICS期刊下所有文献 > Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier.

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier.

Abstract：

PURPOSE:To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes. METHODS:A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds. RESULTS:The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p < 0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p < 0.001). CONCLUSIONS:The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.

journal_name

J Assist Reprod Genet

journal_title

Journal of assisted reproduction and genetics

authors

Godo A,Blanco J,Vidal F,Parriego M,Boada M,Anton E

doi

10.1007/s10815-013-0063-5

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

1115-23

issue

9

eissn

1058-0468

issn

1573-7330

journal_volume

30

pub_type

杂志文章

相关文献

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS文献大全
  • Natural conception after age 45 in Bedouin women, a uniquely fertile population.

    abstract：PURPOSE:Women conceiving naturally and delivering after age 45 are an exceptionally fertile population that may serve as a model to identify factors associated with delayed reproductive aging. This work studies this phenomenon in Bedouin women. METHODS:The study is an observational retrospective analysis of all Bedoui...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-006-9058-9

    authors： Gielchinsky Y,Mazor M,Simon A,Mor-Yossef S,Laufer N

    更新日期：2006-07-01 00:00:00

  • The antral follicle count predicts the outcome of pregnancy in a controlled ovarian hyperstimulation/intrauterine insemination program.

    abstract：PURPOSE:Our purpose was to test whether age-related changes in antral follicle counts can predict the pregnancy outcome in the early follicular phase of a controlled ovarian hyperstimulation/intrauterine insemination (COH/IUI) program. METHODS:A selected group of 107 women (36 healthy women requesting child sex presel...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1023/a:1022518103368

    authors： Chang MY,Chiang CH,Chiu TH,Hsieh TT,Soong YK

    更新日期：1998-01-01 00:00:00

  • Effects of medium composition on murine and human blastocyst formation and hatching rate.

    abstract：PURPOSE:Murine two-cell embryos (n = 5573) were cultured for 96 hr in human tubal fluid (HTF) medium (n = 2709) or alpha modification of minimum essential medium (MEM; n = 2864) through the hatched blastocyst stage from mid-1990 to mid-1991. An additional 373 embryos were cultured in MEM or HTF with 0, 1, 5, or 10 ng/m...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF01239220

    authors： Olar TT,Potts AS

    更新日期：1993-04-01 00:00:00

  • DNA synthesis and epigenetic modification during mouse oocyte fertilization by human or hamster sperm injection.

    abstract：PURPOSE:To evaluate DNA synthesis and epigenetic modification in mouse oocytes during the first cell cycle following the injection of human or hamster sperm. METHODS:Mouse oocytes following the injection of human and hamster sperm and cultured in M16 medium. RESULTS:Male and female pronucleus formation, DNA synthesis...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-010-9509-1

    authors： Xu YN,Cui XS,Tae JC,Jin YX,Kim NH

    更新日期：2011-04-01 00:00:00

  • Comparison of pregnancy, implantation, and multiple gestation rates for day 3 versus day 5 embryo transfers.

    abstract：PURPOSE:To compare pregnancy, implantation, and multiple gestation rates resulting from day 3 and day 5 embryo transfers after in vitro fertilization emphasizing a subset of patients who met criteria for day 5 transfer but elected to undergo day 3 transfer. METHOD:A retrospective analysis of day 3 and day 5 embryo tra...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1023/a:1026240827476

    authors： Estes SJ,Hoover LM,Smith SE,Somkuti SG,Schinfeld JS,Barmat LI

    更新日期：2003-10-01 00:00:00

  • Association between FSHR polymorphisms and polycystic ovary syndrome among Chinese women in north China.

    abstract：PURPOSE:Polycystic ovary syndrome (PCOS) is a common endocrine disorder disease among women in reproductive-age. Since follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention. The aim of this study was to evalua...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-013-0166-z

    authors： Wu XQ,Xu SM,Liu JF,Bi XY,Wu YX,Liu J

    更新日期：2014-03-01 00:00:00

  • Does the genetic and familial background of males undertaking ICSI affect the outcome?

    abstract：PURPOSE:To investigate whether the success rate of ICSI is (1) related to the etiology of infertility or (2) adversely affected by a family history of potential genetic disorders. METHODS:All men with an ICSI indication in our hospital between 1994 and 2005 were included in our cohort study. Data on the ICSI process, ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-009-9315-9

    authors： Maiburg M,Alizadeh B,Kastrop P,Lock M,Lans S,Giltay J

    更新日期：2009-06-01 00:00:00

  • Endometrial preparation for in vitro oocyte maturation: early use of estrogen increases endometrial tissue and requires lower daily dosage: a cross over trial in 'mock' cycles.

    abstract：PURPOSE:Determine if estrogen used since the beginning of the menstrual flow could improve endometrial tissue compared to standard endometrial preparation for in vitro maturation cycles. METHODS:Twenty polycystic ovary syndrome women were submitted to two estrogen therapy schedules: standard schedule; estrogen began o...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s10815-006-9042-4

    authors： Martins Wde P,dos Reis RM,Ferriani RA,de Araújo CH,Nastri CO,Filho FM

    更新日期：2006-05-01 00:00:00

  • Aging, hyaluronidase removal of the cumulus, and microinjection do not affect the sperm binding potential of human oocytes.

    abstract：PURPOSE:We studied the influence of aging, hyaluronidase removal of the cumulus, and microinjection on the sperm binding potential of human oocytes under intact zona assay conditions to determine the safe use of unstored aged unfertilized ICSI oocytes on zona binding tests. Results were also compared with those for age...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF02765778

    authors： Barros A,Sousa M,Silva J,Almeida V,Rocha E

    更新日期：1997-02-01 00:00:00

  • In vitro DNA fluorescence after in vitro fertilization (IVF) failure.

    abstract：PURPOSE:A pilot study was performed to test the diagnostic value of in vitro DNA fluorescence in oocytes that failed to fertilize after IVF. Ten patients with a cleavage rate less than 20% after IVF were included. RESULTS:Uncleaved oocytes were observed by fluorescence microscopy after incubation with the DNA fluoresc...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF01204255

    authors： Van Wissen B,Eisenberg C,Debey P,Pennehouat G,Auger J,Bomsel-Helmreich O

    更新日期：1992-12-01 00:00:00

  • Simultaneous program of natural-cycle in vitro fertilization and cryopreserved-thawed embryo transfer.

    abstract：PURPOSE:This clinical study was designed to identify and compare the pregnancy rates of simultaneous program of natural-cycle IVF and cryopreserved-thawed ET (NICE) with those of natural-cycle IVF and cryopreserved-thawed ET. METHODS:All three groups comprised spontaneously ovulating infertile women under the age of 4...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF02066425

    authors： Kim SH,Kim CH,Suh CS,Moon SY,Lee JY,Chang YS

    更新日期：1996-10-01 00:00:00

  • Ratio of progesterone-to-number of follicles as a prognostic tool for in vitro fertilization cycles.

    abstract：PURPOSE:To establish a ratio of the P level to the number of follicles (P/F ratio) on the day of human chorionic gonadotropin (hCG) administration and to evaluate whether this ratio is associated with in vitro fertilization (IVF) outcome. METHODS:This study was conducted between January 2012 and June 2013. A total of ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-015-0487-1

    authors： Roque M,Valle M,Sampaio M,Geber S,Checa MA

    更新日期：2015-06-01 00:00:00

  • Lack of association of INS VNTR polymorphism with polycystic ovary syndrome: a meta-analysis.

    abstract：PURPOSE:An association between the INS VNTR polymorphisms and polycystic ovary syndrome (PCOS) susceptibility has been reported in previous studies, but the results were inconsistent. This study was conducted to explore this association using meta-analysis. METHODS:PubMed, Embase, and China National Knowledge Infrastr...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章,meta分析

    doi：10.1007/s10815-014-0211-6

    authors： Song LY,Luo JR,Peng QL,Wang J,Xie L,He Y,Li S,Qin X

    更新日期：2014-06-01 00:00:00

  • Is there any evidence for immunologically mediated or immunologically modifiable early pregnancy failure?

    abstract：PURPOSE:Human reproduction is an inefficient process. There is a high rate of loss of early pregnancies, often before the mother (or physician) knows she is pregnant. Genetic abnormalities can explain much of the wastage, but can it explain all of the failures? As embryos bear paternal and embryonic antigens foreign to...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章,评审

    doi：10.1023/a:1021788024214

    authors： Clark DA

    更新日期：2003-02-01 00:00:00

  • The number of blastomeres in post-thawing embryos affects the rates of pregnancy and delivery in freeze-embryo-transfer cycles.

    abstract：PURPOSE:To observe the differences in pregnancy rates (PRs), delivery rates, and abortion rates associated with frozen-embryo-transfer (FET)-based use of post-thawing embryos with different numbers of blastomeres. METHODS:959 FET cycles and 361 successful FET cycles performed between January 2007 and December 2007. Co...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-009-9360-4

    authors： Zhang S,Lu C,Lin G,Gong F,Lu G

    更新日期：2009-11-01 00:00:00

  • Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.

    abstract：PURPOSE:To evaluate the efficacy of preimplantation genetic testing (PGT) for α- and β-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS). METHODS:An NGS-based PGT protocol was performed between 2017 and 2018 for twelve couples, each of which carried both α- and β-thalassemia ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-020-01732-7

    authors： Chen D,Shen X,Wu C,Xu Y,Ding C,Zhang G,Xu Y,Zhou C

    更新日期：2020-03-01 00:00:00

  • Relationship between pre-ICSI meiotic spindle angle, ovarian reserve, gonadotropin stimulation, and pregnancy outcomes.

    abstract：PURPOSE:The goals of this study are to analyze the clinical pregnancy rate as a function of the pre-intracytoplasmic sperm injection (ICSI) oocyte spindle angle and determine factors which can be associated with different spindle angles, if clinically relevant. METHODS:Fifty-eight patients, who underwent their first I...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-017-0890-x

    authors： Mahfoudh AM,Moon JH,Henderson S,Garcia-Cerrudo E,Son WY,Dahan MH

    更新日期：2017-05-01 00:00:00

  • Initial maternal serum human chorionic gonadotropin levels in pregnancies achieved after assisted reproductive technology are higher after preimplantation genetic screening and after frozen embryo transfer: a retrospective cohort.

    abstract：PURPOSE:Few published articles have compared initial hCG values across all different types of ART cycles, including cycles with fresh or frozen embryo transfer. No articles have compared initial hCG values in cycles utilizing preimplantation genetic screening (PGS). The purpose of this study is to compare initial hCG v...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-017-0987-2

    authors： Hobeika E,Singh S,Malik S,Knochenhauer ES,Traub ML

    更新日期：2017-10-01 00:00:00

  • Author Correction: A novel oocyte maturation trigger using 1500 IU of human chorionic gonadotropin plus 450 IU of follicle-stimulating hormone may decrease ovarian hyperstimulation syndrome across all in vitro fertilization stimulation protocols.

    abstract：:The original version of this article unfortunately contained a mistake. The middle initial of Douglas A. Mata was omitted. The original article has been corrected. ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1007/s10815-017-1093-1

    authors： Anaya Y,Mata DA,Letourneau J,Cakmak H,Cedars MI,Rosen MP

    更新日期：2018-02-01 00:00:00

  • Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.

    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

    authors： Volozonoka L,Perminov D,Korņejeva L,Alkšere B,Novikova N,Pīmane EJ,Blumberga A,Kempa I,Miskova A,Gailīte L,Fodina V

    更新日期：2018-08-01 00:00:00

  • Diminished verbal ability among children conceived through ART with exposure to high serum estradiol in utero.

    abstract：PURPOSE:Higher serum estradiol levels occur in women undergoing assisted reproductive technology (ART) owing to ovarian stimulation. Here, we investigated the association between maternal serum estradiol levels and the intellectual development of offspring conceived with ART. METHODS:A total of 204 singletons born aft...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-020-01835-1

    authors： Zhou CL,Xu GF,Yang Q,Wang HH,Guo MX,Xiong YM,Guo XY,Hou M,Jin LY,Sheng JZ,He L,Jin L,Huang HF

    更新日期：2020-08-01 00:00:00

  • Neuropsychologic dysfunction in women following leuprolide acetate induction of hypoestrogenism.

    abstract：OBJECTIVE:The study investigated the neuropsychological status of women with induced hypoestrogenism. DESIGN:An ABA design was employed in which neuropsychological measures were repeated prior to, during, and after induction of hypoestrogenism with leuprolide acetate. SETTING:The study took place in a medical school ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF01204441

    authors： Varney NR,Syrop C,Kubu CS,Struchen M,Hahn S,Franzen K

    更新日期：1993-01-01 00:00:00

  • Embryo density and medium volume effects on early murine embryo development.

    abstract：BACKGROUND:One-cell mouse embryos were used to determine the effects of drop size and number of embryos per drop for optimum development in vitro. METHODS:Embryos were collected from immature C57BL6 female mice superovulated with pregnant mare serum gonadotropin and human chorionic gonadotropin and mated by CD1 males....

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/BF01204051

    authors： Canseco RS,Sparks AE,Pearson RE,Gwazdauskas FC

    更新日期：1992-10-01 00:00:00

  • Obstetric outcome and incidence of congenital anomalies in 2351 IVF/ICSI babies.

    abstract：PURPOSE:The aim of this study was to provide a comprehensive follow-up of fetal and perinatal outcome and the incidence of congenital anomalies in babies born after fresh embryo transfers compared to those conceived spontaneously in infertile couples. METHODS:Retrospective comparative analysis of all clinical pregnanc...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-016-0714-4

    authors： Levi Setti PE,Moioli M,Smeraldi A,Cesaratto E,Menduni F,Livio S,Morenghi E,Patrizio P

    更新日期：2016-06-01 00:00:00

  • Comparison of intrafollicular sperm injection and intrauterine insemination in the treatment of subfertility.

    abstract：PURPOSE:To compare the efficacy of intrafollicular sperm injection (IFI) versus intrauterine insemination (IUI) in the treatment of subfertility. METHODS:38 couples suffering primary or secondary subfertility contributed a total of 47 IUI or IFI cycles, 26 by IUI and 21 by IFI. Folliculogenesis, ovulation triggering, ...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 临床试验,杂志文章

    doi：10.1007/s10815-012-9836-5

    authors： Lucchini C,Volpe E,Tocci A

    更新日期：2012-10-01 00:00:00

  • Clustering of monozygotic twinning in IVF.

    abstract：PURPOSE:The aim of this analysis was to study whether monozygotic twinning (MZT) events occur in clusters after IVF and, if so, to explore possible explanations for this clustering. METHODS:This is a retrospective cohort study carried out in a single, large university-affiliated reproductive medicine practice. Medical...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-015-0616-x

    authors： Vaughan DA,Ruthazer R,Penzias AS,Norwitz ER,Sakkas D

    更新日期：2016-01-01 00:00:00

  • Association between growth dynamics, morphological parameters, the chromosomal status of the blastocysts, and clinical outcomes in IVF PGS cycles with single embryo transfer.

    abstract：PURPOSE:The purpose of the present study is to examine interconnection between speed of embryo development, the genetic status of the blastocysts, and clinical outcomes in IVF preimplantation genetic screening (PGS) cycles with single embryo transfer (SET). METHODS:The retrospective comparative study has been performe...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-017-0944-0

    authors： Barash OO,Ivani KA,Willman SP,Rosenbluth EM,Wachs DS,Hinckley MD,Pittenger Reid S,Weckstein LN

    更新日期：2017-08-01 00:00:00

  • Ovum donation--an overview.

    abstract：:Ovum donation is now an integral part of the management of infertility, providing a solution for patients previously considered permanently infertile. The indications now include not only patients with premature ovarian failure, but also patients who are carriers of genetic disorders, patients with repeated failures i...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章,评审

    doi：10.1007/BF01207729

    authors： Benshushan A,Schenker JG

    更新日期：1993-02-01 00:00:00

  • The effects of E2 supplementation from the early proliferative phase to the late secretory phase of the endometrium in hMG-stimulated IVF-ET.

    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

    authors： Jung H,Roh HK

    更新日期：2000-01-01 00:00:00

  • Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

    abstract：PURPOSE:This study sought to identify a disease-related gene in a consanguineous Chinese family in which there were two premature ovarian insufficiency (POI) sisters. METHOD:We used whole-exome sequencing and Sanger sequencing to identify the disease-causing gene. Results were verified using an assay of mutant protein...

    journal_title：Journal of assisted reproduction and genetics

    pub_type： 杂志文章

    doi：10.1007/s10815-019-01675-8

    authors： Peng T,Lv C,Tan H,Huang J,He H,Wang Y,Zeng M,Yi D,Li J,Deng H,Shi X,Xiao H

    更新日期：2020-02-01 00:00:00