“How Should I Tell my Child?” Disclosing the Diagnosis of Sex Chromosome Aneuploidies
نویسندگان
چکیده
منابع مشابه
X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies.
During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turne...
متن کاملThe pseudoautosomal region and sex chromosome aneuploidies in domestic species.
The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content bet...
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Emerging heterogeneous multiprocessor chips will integrate a large number of different computational units: e.g., large cores for sequential processing, several smaller cores for parallel processing, Graphics Processing Units (GPUs), media accelerators, helper processors, Digital Signal Processors (DSPs), embedded FPGAs, and application-specific hardware circuits. These units are designed speci...
متن کاملIncidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility
Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex c...
متن کاملEstablishment 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...
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ژورنال
عنوان ژورنال: Journal of Genetic Counseling
سال: 2014
ISSN: 1059-7700,1573-3599
DOI: 10.1007/s10897-014-9741-4