Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure

Cheng, Dehua; Tan, Yue‐Qiu; Di, Yu-fen; Li, Lu-Yun; Lu, Guangxiu

doi:10.1016/j.fertnstert.2008.07.014

Cited by 8 publications

(9 citation statements)

References 11 publications

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“…Translocations of the X chromosome with other autosomes have also been found in patients with POI, including chromosomes 1, 123,142 2, 143,144 9, 123,135,144 11, 145 13, 143 14, 146 15, 147,148 18, 149 19, 143,144 22, 150 and Y. 143,144,151 Translocations between autosomes have also been identified in women with POI. 123,144 Despite identification of relevant genes on the X chromosome which are disrupted by breakpoints from translocations, position effects may also contribute to the loss of ovarian function found in POI.…”

Section: Syndromic Pathologies That Diminish Ovarian Reservesmentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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Ovarian reserve and its utilization, over a reproductive life span, are determined by genetic, epigenetic, and environmental factors. The establishment of the primordial follicle pool and the rate of primordial follicle activation have been under intense study to determine genetic factors that affect reproductive lifespan. Much has been learned from transgenic animal models about the developmental origins of the primordial follicle pool and mechanisms that lead to primordial follicle activation, folliculogenesis, and the maturation of a single oocyte with each menstrual cycle. Recent genome-wide association studies on the age of human menopause have identified approximately 20 loci, and shown the importance of factors involved in double-strand break repair and immunology. Studies to date from animal models and humans show that many genes determine ovarian aging, and that there is no single dominant allele yet responsible for depletion of the ovarian reserve. Personalized genomic approaches will need to take into account the high degree of genetic heterogeneity, family pedigree, and functional data of the genes critical at various stages of ovarian development to predict women's reproductive life span.

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Section: Syndromic Pathologies That Diminish Ovarian Reservesmentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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“…The lack of expression of those missing genes that normally escape X inactivation may threaten ovarian function [ 25 ]. Based on the scientific studies we can conclude that with this POF, the affected patient may be configured by abnormal X chromosome pairing and the epigenetic modification [ 26 ]. The epigenetic effects would be supportable if the patient had a POF affected relative carrying the same deletion.…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Beke

Pikó²,

Haltrich

et al. 2013

Mol Cytogenet

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BackgroundOne of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among the genetic causes the most common one involves the X chromosome, as in Turner syndrome, partial X deletion and X-autosome translocations. Here we report a case of a 27-year-old female patient referred to genetic counselling because of premature ovarian failure. The aim of this case study to perform molecular genetic and cytogenetic analyses in order to identify the exact genetic background of the pathogenic phenotype.ResultsFor premature ovarian failure disease diagnostics we performed the Fragile mental retardation 1 gene analysis using Southern blot technique and Repeat Primed PCR in order to identify the relationship between the Fragile mental retardation 1 gene premutation status and the premature ovarion failure disease. At this early onset, the premature ovarian failure affected patient we detected one normal allele of Fragile mental retardation 1 gene and we couldn’t verify the methylated allele, therefore we performed the cytogenetic analyses using G-banding and fluorescent in situ hybridization methods and a high resolution molecular cytogenetic method, the array comparative genomic hybridization technique. For this patient applying the G-banding, we identified a large deletion on the X chromosome at the critical region (ChrX q21.31-q28) which is associated with the premature ovarian failure phenotype. In order to detect the exact breakpoints, we used a special cytogenetic array ISCA plus CGH array and we verified a 67.355 Mb size loss at the critical region which include total 795 genes.ConclusionsWe conclude for this case study that the karyotyping is definitely helpful in the evaluation of premature ovarian failure patients, to identify the non submicroscopic chromosomal rearrangement, and using the array CGH technique we can contribute to the most efficient detection and mapping of exact deletion breakpoints of the deleted Xq region.

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“…Fluorescence in situ hybridization (FISH) was further used, when necessary, to determine the complex karyotypes as previously described [8]. Briefly, the peripheral blood lymphocytes were cultured under phytohemagglutinin (PHA) stimulation and treated with colcemid and harvested by standard methods.…”

Section: Methodsmentioning

confidence: 99%

Etiological Analysis of Neurodevelopmental Disabilities: Single‐Center Eight‐Year Clinical Experience in South China

Guo

Li²,

Deng³

et al. 2010

BioMed Research International

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Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including inborn errors of metabolism (IEM) and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, gas chromatography-mass spectrometry (GC-MS), and tandem mass spectrometry (MS-MS), proved to be substantially helpful for the exploration of the NDD etiologies in this clinical investigation. The findings in this paper provided latest epidemiologic information on the etiology distribution of NDDs in Chinese, and the syndromic NDDs caused by citrin deficiency and the novel chromosomal karyotype, respectively, further expanded the etiology spectrum of NDDs.

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Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure

Cited by 8 publications

References 11 publications

Genomic Markers of Ovarian Reserve

Genomic Markers of Ovarian Reserve

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Etiological Analysis of Neurodevelopmental Disabilities: Single‐Center Eight‐Year Clinical Experience in South China

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