Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

Portnoı̈, Marie-France; Aboura, Azzedine; Tachdjian, Gérard; Bouchard, Philippe; Dewailly, Didier; Bourcigaux, Nathalie; Frydman, René; Reyss, Anne-Céline; Brisset, Sophie; Christin-Maître, Sophie

doi:10.1093/humrep/del174

Cited by 66 publications

(52 citation statements)

References 29 publications

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“…Lakhal et al detected 34 (5.9%) patients with homogeneous or mosaic X-chromosome aneuploidy out of 568 with secondary amenorrhea. In contrast, Portnoi et al identified no 45,X/46,XX or 46,XX/47,XXX chromosome mosaicisms in any of their POI patients or controls [30].…”

Section: Discussionmentioning

confidence: 87%

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Chromosomal Abnormalities and Menstrual Cycle Disorders

Geršak¹,

Gersak²

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Chromosomal abnormalities have long been recognized as a cause of menstrual cycle disorders, premature ovarian insufficiency, and recurrent pregnancy loss. In women with X chromosome abnormalities, premature ovarian insufficiency is mainly a consequence of ovarian follicle depletion, due to insufficient initial follicle number and/or spontaneous accelerated follicle loss. The level of X chromosome mosaicism and its reproductive significance is still under debate. In our study, we evaluated the contribution of X chromosome abnormalities in women with sporadic idiopathic premature ovarian insufficiency (POI) and in women with a history of recurrent pregnancy loss. The results show that X aneuploidy and low-level mosaicism have reproductive significance in the phenotypically normal women with recurrent pregnancy loss and/or fertility problems. These results have practical implications for genetic counseling and fertility treatment.

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Section: Discussionmentioning

confidence: 87%

“…Also, Eggermann et al presented a familial case of POI women with a small deletion from Xq27.2/Xq27.3 to Xqter [29]. In a population of 90 POI patients, Portnoi et al identified three women bearing a large terminal Xq deletion involving Xq21-qter [30].…”

Section: Chromosome Rearrangementsmentioning

confidence: 99%

Chromosomal Abnormalities and Menstrual Cycle Disorders

Geršak¹,

Gersak²

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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“…There was no patient with abnormal secondary sexual characteristics or with characteristic features of Turner syndrome such as short stature, webbed neck, hypoplastic uterus, or other dysmorphic features. The anti-thyroid peroxidase antibody was detected in only a case with 45,X [5] /47,XXX [1] /46,XX [94] . The patient with fragile X premutation carrier was mentally normal but she had a mentally impaired son diagnosed with fragile X syndrome.…”

Section: Resultsmentioning

confidence: 99%

“…Premature ovarian insufficiency (POI) is characterized by amenorrhea, the presence of high levels of gonadotropins [folliclestimulating hormone (FSH) > 40 mIU/ml], and low levels of estradiol (E2) for at least 6 months duration in women before the age of 40 [1]. POI occurs in ~1% of the general female population before 40 years of age, as its incidence according to age is approximately 10/100,000 in women aged 15 to 29 years and 79/100,000 in women aged 30 to 39 years [2].…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Ates¹,

Özcan²,

Yeşil³

2016

Ann Clin Anal Med

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ÖzetAmaç: Prematür over yetmezliği (POY) 40 yaşından önce gözlenen, 6 ay veya daha uzun süre adet görememe, serum folikül stimüle edici hormon yüksekli-ği ve düşük serum estradiol düzeyi ile tanımlanan bir durumdur. Bu çalışma-da amaç POY tanısı alan olgularda kromozom anomali tipleri ve sıklığı araş- Anahtar KelimelerPrematür Over Yetmezliği; X Kromozom Anomalisi; Karyotip; Mosaism Abstract Aim: Premature ovarian insufficiency (POI) is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%). All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3%) women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman's age, cytogenetic investigations should be routinely performed in cases with POI.

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“…About 9% of POF are related to X chromosome aberrations that comprise both numerical (monosomy and trisomy) and segmental (deletions, isochromosomes and balanced X: autosomal translocations) abnormalities [26][27][28]. The complete or partial absence of one X chromosome is associated with Turner syndrome characterized by defective ovarian function and gonadal dysgenesis [29].…”

Section: Chromosome X Defects In Pofmentioning

confidence: 99%

Insight into the Genomics of Premature Ovarian Failure

Stigliani¹

2013

J Mol Genet Med

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Primary Ovarian Failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles. It causes infertility in ~1% of women <40 years of age and it has important health consequences for affected patients. POF is a heterogeneous disease, which can develop as a result of a broad variety of pathogenic mechanisms including genetic, autoimmune and iatrogenic causes. However, the mechanisms that cause ovarian dysfunction are poorly understood. Focus on genetic component of the disease has revealed the existence of several causal genetic defects, thus indicating that in addition to some monogenic forms, POF may frequently be a multifactorial disease involving several gene abnormalities and chromosome aberrations. Moreover, most recent studies have highlighted that epigenetic mechanisms may give an additional contribution to POF pathogenesis. This review gives a picture of the state of the art of the complex genetic and epigenetic defects associated with POF, being it clear that a deep comprehension of the molecular etiology of POF may in future early identify those women with higher risk of POF.

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Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

Abstract: Karyotyping is definitely helpful in the evaluation of POF patients. No submicroscopic chromosomal rearrangements affecting Xq region were identified. Further analysis using DNA microarrays should help delineate Xq regions involved in POF.

Cited by 66 publications

References 29 publications

Chromosomal Abnormalities and Menstrual Cycle Disorders

Chromosomal Abnormalities and Menstrual Cycle Disorders

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Insight into the Genomics of Premature Ovarian Failure

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