Molecular studies of parental origin and mosaicism in 45,X conceptuses

Hassold, Terry; Pettay, Dorothy; Robinson, Arthur; Uchida, Irene A.

doi:10.1007/bf00221956

Cited by 80 publications

(56 citation statements)

References 12 publications

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“…Nine had a maternal single X chromosome and three had a paternal one (table 3). The frequency of paternal origin of the syndrome observed by us (75%) fell within the limits described for the largest Turner syndrome series, ranging from 68 to 83% [1, 2, 22]. …”

Section: Resultsmentioning

confidence: 67%

“…Over the past few years, studies of restriction fragment length polymorphisms (RFLPs) have contributed to elucidate the parental origin of the X chromosome in Turner syndrome [1, 2]. More recently, several laboratories have applied the polymerase chain reaction (PCR) to detect cryptic mosaicisms (mainly Y mosaicisms) unnoticed by conventional cytogenetic analyses [3, 4, 5, 6, 7, 8, 9, 10].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Martínez-Pasarell¹,

Templado²,

Egozcue³

et al. 1999

Horm Res Paediatr

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In this study, we report an accurate method to determine the parental origin of sex chromosome aneuploidies or polyploidies and to detect low percentage mosaicisms. We have amplified by polymerase chain reaction (PCR) five polymorphic markers along the X chromosome (DXS1283E, DYS II, DMD49, AR and DXS52) and three markers along the Y chromosome (SRY, DYZ3 and DYZ1). False-negative results were discarded by the simultaneous amplification of Y markers and of internal controls. We have applied this protocol to a series of 14 Turner syndrome patients with a 45,X karyotype. We have detected sex chromosome mosaicisms in two patients. The parental origin of the syndrome has been determined in the other 12 patients.

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Section: Resultsmentioning

confidence: 67%

Section: Introductionmentioning

confidence: 99%

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Martínez-Pasarell¹,

Templado²,

Egozcue³

et al. 1999

Horm Res Paediatr

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show abstract

“…Although maternal errors account for the vast majority of human aneuploid conceptuses, paternal errors do occur and, for some chromosomes, predominate; in 10% of Down syndrome cases, the extra chromosome 21 is of paternal origin (Zaragoza et al 1994) and, among sex chromosome aneuploidies, 50% of 47,XXY cases are attributable to a paternal error (Hassold et al 1992). In addition, 47,XYY cases can only be of paternal origin, and they are not rare, with an incidence of 1 in 1000 male births (Hook and Hammerton 1977).…”

mentioning

confidence: 99%

Evidence for Paternal Age-Related Alterations in Meiotic Chromosome Dynamics in the Mouse

Vrooman

Nagaoka²,

Hassold

et al. 2014

Genetics

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Increasing age in a woman is a well-documented risk factor for meiotic errors, but the effect of paternal age is less clear. Although it is generally agreed that spermatogenesis declines with age, the mechanisms that account for this remain unclear. Because meiosis involves a complex and tightly regulated series of processes that include DNA replication, DNA repair, and cell cycle regulation, we postulated that the effects of age might be evident as an increase in the frequency of meiotic errors. Accordingly, we analyzed spermatogenesis in male mice of different ages, examining meiotic chromosome dynamics in spermatocytes at prophase, at metaphase I, and at metaphase II. Our analyses demonstrate that recombination levels are reduced in the first wave of spermatogenesis in juvenile mice but increase in older males. We also observed age-dependent increases in XY chromosome pairing failure at pachytene and in the frequency of prematurely separated autosomal homologs at metaphase I. However, we found no evidence of an age-related increase in aneuploidy at metaphase II, indicating that cells harboring meiotic errors are eliminated by cycle checkpoint mechanisms, regardless of paternal age. Taken together, our data suggest that advancing paternal age affects pairing, synapsis, and recombination between homologous chromosomes-and likely results in reduced sperm counts due to germ cell loss-but is not an important contributor to aneuploidy.

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“…Most of these studies were small series including 4-39 live-born patients with Turner syndrome [20,23,24,[32][33][34][35][36]. The 2 largest series with 97 children [5] and 93 prepubertal patients [37] showed rates in the lower range (71-72%).…”

Section: Discussionmentioning

confidence: 99%

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

Grande

Stergiotou²,

Pauta³

et al. 2017

Fetal Diagn Ther

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Objective: To assess the distribution of the parental origin of the retained X chromosome in monosomy X, either in miscarriages or in ongoing pregnancies. Method: The parental origin of the X chromosome was determined in monosomy X pregnancies, either miscarriages or ongoing pregnancies. Microsatellite marker patterns were compared between maternal and fetal samples by quantitative fluorescence polymerase chain reaction. Distributions of maternally and paternally derived X chromosome were assessed in miscarriages and in ongoing pregnancies using two-tailed Fisher exact test. Results: Forty monosomy X pregnancies were included in the study: 26 miscarried at 5-16 weeks, and 14 ongoing pregnancies were diagnosed at 11-20 weeks. The retained X chromosome was maternally derived in 67% of the cases. In miscarriages, maternal and paternal X chromosome were retained in a similar proportion (54% [95% CI: 35-73%] vs. 46% [95% CI: 27-65%]), while in ongoing pregnancies, the maternal rate was 13 times higher (93% [95% CI: 79-100%)] vs. 7% [95% CI: 0-20%]). Conclusions: The retained X chromosome in individuals with monosomy X should theoretically be maternally derived in 2/3 of the cases. Our study suggests a preferential early miscarriage in pregnancies with a retained paternally derived X chromosome. This may explain the observation that 75-90% of individuals with monosomy X retain the maternal X chromosome.

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Molecular studies of parental origin and mosaicism in 45,X conceptuses

Cited by 80 publications

References 12 publications

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

PCR Protocol to Detect Parental Origin and Hidden Mosaicism inSex Chromosome Aneuploidies

Evidence for Paternal Age-Related Alterations in Meiotic Chromosome Dynamics in the Mouse

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

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