Premature ovarian failure due to an unbalanced translocation on the X chromosome

Ashraf, Mohmad; Jayawickrama, NS; Bowen-Simpkins, P

doi:10.1111/j.1471-0528.2001.00026.x

Cited by 2 publications

(2 citation statements)

References 4 publications

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“…Banerzee et al (1997) have reported translocation 46,X,t(X:22)(q24;q13) in a 25-year-old woman with secondary amenorrhoea and POF. Ashraf et al (2001) also reported an unbalanced translocation from X(q27;qter) to 5p14 in a 17-year-old girl with POF. Sala et al (1997) reported mapping of 11 breakpoints in a 15 Mb region at Xq21 (POF2 locus) and came to the conclusion that the defects in as many as eight genes would be required to explain the association with POF over such a large area.…”

Section: Xq273mentioning

confidence: 85%

Genes governing premature ovarian failure

Dixit

Rao

Padmalatha

et al. 2010

Reproductive BioMedicine Online

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Premature ovarian failure (POF) is unexplained amenorrhoea (>6 months), increased FSH (>20 IU/l) and LH occurring before 40 years. Several genes are reported as having significance in POF, including genes governing regulation of the hypothalamic-pituitary-ovarian axis, but their role in ovarian physiology is not known. Deletions or translocations in Xq arm have been found to be associated with POF, assuming presence of ovarian-related genes but ovary-related function of these genes is unclear. Several researchers have suggested specific loci on Xq critical region, POF1 and POF2 and genes DIA, FMR1 and FMR2. The understanding of ovarian physiology, its regulation and genes involved is important to explain the causes of POF. Some genes coordinate development of germ cell to primordial stage, e.g. GDF9, BMP15 and NGF, while others regulate development of further stages, such as FSH and LH. Mutation in these genes may lead to female infertility and are likely to be candidate genes for POF. Recently, association between blepharophimosis-ptosis-epicanthus inversus syndrome type 1 and POF has emerged as a possibility. Galactosaemia is also shown to be important in POF due to toxic effects of accumulated galactose or downstream products. Thus, understanding the role of several genes can be used for the appropriate genetic diagnosis, research and in the clinical practice of POF.

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Section: Xq273mentioning

confidence: 85%

Genes governing premature ovarian failure

Dixit

Rao

Padmalatha

et al. 2010

Reproductive BioMedicine Online

View full text Add to dashboard Cite

show abstract

“…Very few cases with X chromosome and autosome translocations have been reported [41]. Chromosome 3, 9 and 15 are the frequent partners of X-autosome translocations [42].…”

Section: Discussionmentioning

confidence: 99%

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

Kandukuri

Padmalatha

Kanakavalli

et al. 2012

Case Reports in Genetics

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Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40. It has been studied earlier that chromosomal defects can impair ovarian development and its function. Since there is paucity of data on chromosomal defects in Indian women, an attempt is made to carry out cytogenetic evaluation in patients with ovarian failure. Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.

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Premature ovarian failure due to an unbalanced translocation on the X chromosome

Cited by 2 publications

References 4 publications

Genes governing premature ovarian failure

Genes governing premature ovarian failure

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

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