Sex Chromosome Aneuploidy: Prospective Studies on Children

نویسنده

  • Margretta R. Seashore
چکیده

This two-volume publication contains the proceedings of a NATO Advanced Study Institute, held in April 1978. The material is organized in five sections. In the first section J. Bonner presents a historic review of chromatin research. The following section describes biophysical and chemical methods used in the study of isolated chromatin, such as electron microscopy, circular dichroism, X-ray diffraction, and nuclear magnetic resonance. Several of these chapters are written for the non-specialist and serve as a useful introduction to the methodology; others are quite detailed, and a few are of questionable relevance. The third section describes chromatin organization at different levels, the nucleosome, multimers, chromosomal proteins and their enzymatic modifications, and changes in chromatin structure related to gene expression. This section is uneven in quality, but contains some excellent reviews (e.g., chromatin fractionation and the properties of transcriptionally active regions of chromatin) which compensate for the fact that major contributors to this field of research did not participate in the meeting and, therefore, the collection of papers included does not represent the whole field. Section IV takes the topic of chromatin structure to a higher level of biology and includes papers on cellular aging, transformation, carcinogenesis, DNA repair, and electromagnetic studies of the cell surface. The relationship of these chapters to chromatin structure is often unclear, but they point out interfaces between areas of research for future studies. A discussion between participants at the end of each section and a panel review at the end of the conference (Section V) convey the constructive working atmosphere and illustrate different viewpoints and open questions. These books are recommended as an introductory text for those who want to engage in active research in this field and as a reference source for biomedical libraries.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Targeted cell‐free DNA analysis with microarray quantitation for assessment of fetal sex and sex chromosome aneuploidy risk

The accuracy of targeted cell-free DNA (cfDNA) testing with DANSRTM and FORTETM for trisomies 21, 18 and 13 has been well demonstrated and is consistent across next generation sequencing and microarray quantitation methods1. Targeted cfDNA analysis for fetal sex chromosome aneuploidy (SCA) has also been validated and shown to have high specificity in prospective studies2,3. This study expands u...

متن کامل

A preliminary study on chromosome aneuploidy & mosaicism in early pre-implantation human embryo by fluorescence in situ hybridization.

BACKGROUND & OBJECTIVE Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic & fluorescent in situ hybridization (FISH) studies on developmentally arrested and morphologically poor embryo have shown high frequency of chromosomal abnormality and mosaicism. In this study, we attempted to evaluate chromosome aneuploidy and mosaic...

متن کامل

I-35: Polar Body Analysis by Array CGH Identifies Women with Varying Susceptibility to Aneuploidy and Suggests that Non-disjunction Is Not The Predominant Mechanism Leading to Aneuploidy in Humans

Background: The maternal age effect for trisomy is well known. However what is less established is whether certain women are more (or less) prone to segregation errors, independent of age. Trisomy arises primarily through maternal meiosis I chromosome segregation errors however the precise mechanism by which these errors occur is unclear. Current dogma attributes the origin of trisomy to malseg...

متن کامل

Association of the -308G/A Polymorphism of TNF-α Gene with Some Semen and Sperm Parameters in Men with Infertility

Background The tumor necrosis factor alpha (TNF-α) gene is a cytokine involved in systemic inflammation. Results of the association of its polymorphisms with infertility in men are controversial.  Objective The aim of this study was to evaluate the association of -308G/A polymorphism in TNF-α gene with different parameters of semen and sperm in infertile men.  Methods Participants were 210 me...

متن کامل

Morphological nuclear integrity of sperm cells is associated with preimplantation genetic aneuploidy screening cycle outcomes.

OBJECTIVE To examine the effect of sperm morphology on embryo development at the chromosomal level. DESIGN Prospective study. SETTING Assisted fertilization center. PATIENT(S) Couples who underwent IVF-PGS cycle, as a result of advanced maternal age, were randomly allocated into two groups: intracytoplasmic sperm injection (ICSI; n = 60) or intracytoplasmic morphologically selected sperm ...

متن کامل

Establishment of a 10-Plex Quantitative Fluorescent-PCR Assay for Rapid Diagnosis of Sex Chromosome Aneuploidies

Sex chromosome aneuploidies occur commonly in the general population, with an incidence of 1 in 400 newborns. However, no tests specifically targeting sex chromosomes have been carried out in prenatal diagnosis or newborn screening, resulting in late recognition of these diseases. In this study, a rapid diagnostic method for sex chromosome aneuploidies was established using Quantitative Fluores...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Yale Journal of Biology and Medicine

دوره 53  شماره 

صفحات  -

تاریخ انتشار 1980