X chromosome loss and ageing

Russell, Louisa M.; Strike, Peter; Browne, C. Elliot; Jacobs, PatriciaA.

doi:10.1159/000098184

Cited by 175 publications

(160 citation statements)

References 35 publications

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“…As women age, they experience a natural loss of the X chromosome resulting in a baseline rate of mosaicism that would generate maternal cfDNA with fewer X chromosome fragments than expected. 12 The potential presence of fetal mosaicism must also be considered, as 10-15% of XXY and XXX cases are mosaic, and up to 50% of surviving cases of Monosomy X display multiple cell lines. [6][7][8] In addition to the potential for mosaicism, undiagnosed maternal SCA may also complicate testing.…”

Section: Introductionmentioning

confidence: 99%

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Hooks¹,

Wolfberg²,

Wang³

et al. 2014

Prenat Diagn

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Objective To assess the performance of a directed chromosomal analysis approach in the prenatal evaluation of fetal sex chromosome aneuploidy.Methods We analyzed 432 frozen maternal plasma samples obtained from patients prior to undergoing fetal diagnostic testing. The cohort included women greater than 18 years of age with a singleton pregnancy of greater than 10 weeks gestation. Samples were analyzed using a chromosome-selective approach (DANSR TM ) and a risk algorithm that incorporates fetal fraction (FORTE TM ).Results The cohort included 34 cases of sex chromosome aneuploidy. The assay correctly identified 26 of 27 (92.6%) cases of Monosomy X, one case of XXX, and all six cases of XXY. There were four false positive cases of sex chromosome aneuploidy among 380 euploid cases for an overall false positive rate of less than 1%.Discussion Analysis of the risk for sex chromosome aneuploidies can be accomplished with a targeted assay with high sensitivity.

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Section: Introductionmentioning

confidence: 99%

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Hooks¹,

Wolfberg²,

Wang³

et al. 2014

Prenat Diagn

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“…A singular exception might be monosomy X, which can be detected prenatally by the presence of cystic hygroma and results in prenatal or perinatal fetal demise in up to 99% of all cases [43]. Second, feto-placental and maternal mosaicism is more frequent for SCAs: it has been demonstrated, that with advanced maternal age, the mosaic loss of a single maternal X-chromosome is more likely [44,45]. Additionally, placental mosaicism is observed in around 60% of Turner syndrome neonates [46,47].…”

Section: The Performance Of Niptmentioning

confidence: 99%

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Harasim¹,

Rost

Klein³

2016

LaboratoriumsMedizin

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Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

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“…2). Однако онтогенетические вариации генома при старении более очевидны в исследованиях нормально стареющих клеток и тканей [45][46][47][48][49][50][51]. GIN и CIN (анеуплоидии) вызы-вают широкий спектр болезней и в детстве, и в зрелом возрасте [5,10,15,24].…”

Section: нестабильность соматического генома во время пренатального рunclassified

Genomic Instability in the Brain: Etiology, Pathogenesis and New Biological Markers of Psychiatric Disorders

IuB

et al. 2012

Annals RAMS

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ВведениеНепостоянство или нестабильность генома на уровне последовательности ДНК или хромосом -главная особенность наследственного аппарата всех живых организмов, включая человека. Генетическая изменчи-вость (нестабильность), затрагивающая геном половых клеток, наследуется в ряду поколений клеток и орга-низмов, обеспечивает не только филогенетическое разнообразие генов и хромосом между видами в ходе эволюции, но также лежит в основе различных патоло-гических процессов, нарушающих структуру и функции генома [1,2]. Однако многие широко распростра-ненные и социально значимые заболевания, например онкологические, иммунологические и многие генети-ческие, в значительной степени обусловлены наруше-ниями генома, происходящими не в половых, а в сома-тических клетках на разных стадиях онтогенеза [3][4][5]. Нестабильность генома в онтогенезе проявляется в клетках разных тканей и органов, включая головной мозг. Наиболее частой формой приобретенных геномных изменений является, по-видимому, нестабильность хромосом (CIN, Chromosome instability), или анеупло-идия [4]. Анеуплоидия, или изменение числа хромосом в клетке, затрагивает одновременно сотни или тысячи генов и является наиболее злокачественной формой

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X chromosome loss and ageing

Cited by 175 publications

References 35 publications

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Genomic Instability in the Brain: Etiology, Pathogenesis and New Biological Markers of Psychiatric Disorders

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