Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure

Northup, Jill K.; Griffis, Kathleen; Hawkins, Judy C.; Lockhart, Lillian H.; Velagaleti, Gopalrao V.N.

doi:10.1016/j.fertnstert.2006.05.089

Cited by 8 publications

(5 citation statements)

References 9 publications

(5 reference statements)

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“…Contrary to male spermatogenesis defects (12), very few cases of autosomal anomalies associated with POF have been reported and the most frequent anomalies are robertsonian translocations (13,14). Gametogenesis failure was not induced by genomic imbalances but by a mechanical chromosome difficulty during meiosis and this difficulty is probably more important in spermatogenesis as compared to oocytogenesis.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

Lakhal¹,

Braham²,

Berguigua³

et al. 2010

Clinical Genetics

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To evaluate the implication of chromosome abnormalities in the etiology of premature ovarian failure (POF), 1000 patients with POF recruited at the Department of Cytogenetics of Farhat Hached Hospital (Sousse, Tunisia) between January 1996 and December 2008. Chromosome analyses were performed by using karyotyping and interphase fluorescent in situ hybridisation (FISH) using a centromeric probe of the chromosome X to look for low-level mosaicism of X-chromosome monosomy. Hundred and eight chromosomal abnormalities (10.8%) were found using karyotype analysis. Anomalies were detected in 61 cases out of 432 primary amenorrhea patients (14.12%) and 47 cases out of 568 secondary amenorrhea patients (8.27%). In 23 POF patients among 200 (11.5%) with 46,XX normal karyotype and explored using interphase FISH analysis, the percentage of cells with X-chromosome monosomy was significantly higher as compared with controls in the same age. The cytogenetic study of POF patients showed a high prevalence of chromosome anomalies either in primary or in secondary amenorrhoea. Mosaic X-chromosome s aneuploïdy was the most frequent abnormality and some patients with POF may be attributable to low-level 45,X/46,XX mosaicism detectable using FISH analysis.

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Section: Discussionmentioning

confidence: 99%

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

Lakhal¹,

Braham²,

Berguigua³

et al. 2010

Clinical Genetics

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“…NLRP11 (region 19b) is a member of the NLRP family of genes that play important roles in the innate immune system and reproductive system. Several NLRP genes show an oocyte specific expression pattern 46 , while NLRP5 has been implicated in POI, and serves as an autoantigen in a mouse model of autoimmune POI 48,49 . Many autoimmune conditions are associated with a particular HLA type, but no such association has been reported for POI 50,51 .…”

Section: Discussionmentioning

confidence: 99%

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Stolk¹,

Perry²,

Chasman³

et al. 2012

Nat Genet

323

327

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To identify novel loci for age at natural menopause, we performed a meta-analysis of 22 genome-wide association studies in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 new age at natural menopause loci (P < 5 × 10−8). The new loci included genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG, PRIM1) and immune function (IL11, NLRP11, BAT2). Gene-set enrichment pathway analyses using the full GWAS dataset identified exodeoxyribonuclease, NFκB signalling and mitochondrial dysfunction as biological processes related to timing of menopause.

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“…Female mice with null mutations in the IL-11 receptor gene are infertile due to defective uterine decidualization96, while the NLRP gene family regulates both innate immunity and reproduction. Several NLRP genes show an oocyte specific expression pattern96, while NLRP5 has been implicated in POI and encodes an autoantigen in a mouse model of autoimmune POI97,98.…”

Section: Introductionmentioning

confidence: 99%

Molecular insights into the aetiology of female reproductive ageing

et al. 2015

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As age at pubertal onset declines and age at first pregnancy increases, the mechanisms that regulate female reproductive lifespan become increasingly relevant to population health. The timing of menarche and menopause can have profound effects not only on fertility but also on the risk of diseases such as type 2 diabetes mellitus, cardiovascular disease and breast cancer. Genetic studies have identified dozens of highly penetrant rare mutations associated with reproductive disorders, and also ∼175 common genetic variants associated with the timing of puberty or menopause. These findings, alongside other functional studies, have highlighted a diverse range of mechanisms involved in reproductive ageing, implicating core biological processes such as cell cycle regulation and energy homeostasis. The aim of this article is to review the contribution of such genetic findings to our understanding of the molecular regulation of reproductive timing, as well as the biological basis of the epidemiological links between reproductive ageing and disease risk.

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Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure

Cited by 8 publications

References 9 publications

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Molecular insights into the aetiology of female reproductive ageing

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