The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome).

scientific article published on 27 March 2017

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/PD.5044
P698PubMed publication ID28346690

P50authorCarole Samango-SprouseQ87679404
Andrea GropmanQ87679406
P2093author name stringTeresa Sadeghin
Colleen Keen
P2860cites workVariation in the decision to terminate pregnancy in the setting of fetal aneuploidyQ46842287
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Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy lossQ46987831
Klinefelter syndrome: expanding the phenotype and identifying new research directionsQ47388441
Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction.Q51114145
Effects of an extra X chromosome on language lateralization: an fMRI study with Klinefelter men (47,XXY).Q51892435
Cognitive and motor development during childhood in boys with Klinefelter syndrome.Q51964511
Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.Q52013516
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.Q55115698
Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences.Q55317666
Presence of fetal DNA in maternal plasma and serumQ57075132
Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview surveyQ57643617
Case-control analysis of paternal age and trisomic anomaliesQ58133751
Klinefelter syndrome and other sex chromosomal aneuploidiesQ21093172
Identification and Evaluation of Children With Autism Spectrum DisordersQ22241506
Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic reviewQ24649106
Non-invasive prenatal testing: a review of international implementation and challengesQ26999426
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.Q30559709
Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalitiesQ34138636
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry studyQ34175866
Natural history of seminiferous tubule degeneration in Klinefelter syndromeQ34452169
Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, DenmarkQ34618515
Is the prevalence of Klinefelter syndrome increasing?Q34713434
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.Q34769804
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysisQ35552815
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndromeQ35972410
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing PopulationQ36101039
Invasive prenatal diagnostic procedures 2005.Q36232076
Klinefelter syndrome diagnosed by prenatal screening tests in high-risk groupsQ36778372
Postnatal screening for Klinefelter syndrome: is there a rationale?Q37827896
Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): a reviewQ37834058
Klinefelter syndrome: an argument for early aggressive hormonal and fertility management.Q38021626
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variationsQ38075502
Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screeningQ38280432
Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developmentsQ38433972
Introduction: past, present, and future care of individuals with XXY.Q39477139
The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomesQ39672999
Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY.Q40978904
Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX.Q41432674
Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biologyQ41609597
Language profiles in children with Down syndrome and children with language impairment: implications for early interventionQ43412995
Inhibin B and anti-Müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndromeQ44835068
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.Q45026733
Klinefelter syndrome: the need for early identification and treatmentQ45839236
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasmaQ46170290
Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patientsQ46819221
P433issue5
P304page(s)497-501
P577publication date2017-04-17
P1433published inPrenatal DiagnosisQ15760059
P1476titleThe benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)
P478volume37

Reverse relations

cites work (P2860)
Q48249497Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies.
Q64964824Is genetic fatherhood within reach for all azoospermic Klinefelter men?
Q88223902Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study
Q61807923Recent advances in managing and understanding Klinefelter syndrome

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