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Published on BioPortfolio: 2015-02-16T21:18:30-0500
Shortly after the implementation of Comprehensive Chromosome Screening (CCS) techniques for Preimplantation Genetic Screening (PGS) came the transition in biopsy timing. Trophectoderm biop...
With the development of society, more and more aged pregnant women because of various reasons, their abnormality rate of egg chromosome was higher than that of young women, then the abnorm...
The risk of abnormal chromosome and structure is much higher in twins than in singletons, and traditional early pregnancy screening strategy for single pregnancy is not suitable for twins....
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome v...
Natera is recruiting patients for a research study evaluating pregnancy and implantation rates in women undergoing In Vitro Fertilization (IVF) and Preimplantation Genetic Screening (PGS)....
To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols.
Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is n...
Infertile male carrying balanced translocations can be broadly divided into two types: pregestational and gestational infertility. Chromosome and breakpoints involved translocation should be considere...
Structural chromosome abnormalities can cause significant negative reproductive outcomes as they typically result in morbidity and mortality of newborns. The prevalence of structural chromosomal abnor...
Forward genetics can provide insight into molecular pathways as has been demonstrated by advances in cell biology from comprehensive genetic studies in simple organisms. Recently, techniques have beco...
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS) in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)