Cytogenetic Analysis of Patients with Primary Amenorrhea

Vijayalakshmi, J.; Koshy, Teena; Kaur, Harpreet; Mary, F. Andrea; Selvi, Radhakrishnan; Parvathi, Venkatachalam Deepa; Bhavani, R.; Jayanth, R. Vikram; Venkatchalam, P.; Paul, Solomon F.D.

doi:10.1080/09723757.2010.11886087

Cited by 30 publications

(39 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[20] As similar to that, in present study, the presence of deletion of long arm of chromosome X in 2 patients was confirmed, using FISH, which is very difficult by conventional cytogenetic where short arm of the X chromosome is similar to the Y chromosome.…”

Section: Discussionsupporting

confidence: 91%

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

El-Dahtory¹

2012

Indian J Hum Genet

View full text Add to dashboard Cite

BACKGROUND:Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt.MATERIALS AND METHODS:Chromosomal analysis and hormonal assay were carried out on 223 patients with primary amenorrhea that were referred from different parts of Egypt to Cytogenetic laboratory of Genetic Unit, Children Hospital Mansoura University, from July 2008 to December 2010. FISH technique was carried out in some of cases to more evaluation.RESULTS:The frequency of chromosomal abnormalities was 46 (20.63%) in primary amenorrhea patients. The chromosomal abnormalities can be classified into four main types. (1) The numerical abnormalities of the X chromosome were detected in 23 (50 %). (2) Structural abnormalities of the X chromosome were detected in 11 (23.91%). (3) Mosaicism of X chromosome was found in 10 (21.74%). (4) Male karyotype 46, XY was presented in 2 (4.35%).CONCLUSION:The present study showed that karyotype and FISH are necessary to detect the causes of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in Egypt is similar to that reported in previous literatures.

show abstract

Section: Discussionsupporting

confidence: 91%

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

El-Dahtory¹

2012

Indian J Hum Genet

View full text Add to dashboard Cite

show abstract

“…The relevance of chromosomal analysis in the evaluation of patients with primary amenorrhea for the purpose of accurate diagnosis and appropriate clinical management has been well established. Different surveys conducted world‐wide have implicated chromosomal abnormalities as the etiological factor in 16–50% of women presenting with primary amenorrhea …”

Section: Introductionmentioning

confidence: 99%

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

Samarakoon

Sirisena

Wettasinghe

et al. 2012

J of Obstet and Gynaecol

View full text Add to dashboard Cite

show abstract

“…Many studies have been undertaken to determine the frequency of sex-chromosome abnormalities among women with primary amenorrhea [2][3][4]8,9]. Chromosomal aberrations are present in 46%-62% of women with primary amenorrhea in the form of X aneuploidy, male karyotype, or different structural X-chromosome abnormalities such as X isochromosome, isodicentrics, rings, and deleted or inverted X chromosomes [1].…”

Section: Discussionmentioning

confidence: 99%

“…It is well documented that numeric and structural rearrangements of the X chromosome contribute to the symptoms of most patients with Turner syndrome, and its variants, with primary amenorrhea [1]. Worldwide, the prevalence of chromosomal abnormalities in women with primary amenorrhea varies from 15.9% to 63.3% [2][3][4][5][6][7][8][9]. The various abnormal karyotypes observed in primary amenorrhea include Turner syndrome (which is a result of X chromosome monosomy), structural abnormalities of the X chromosome (e.g.…”

Section: Introductionmentioning

confidence: 98%

“…Genetic factors-in addition to endocrine disturbances, and constitutional and environmental factorshave an important role in causing primary amenorrhea [2]. It is well documented that numeric and structural rearrangements of the X chromosome contribute to the symptoms of most patients with Turner syndrome, and its variants, with primary amenorrhea [1].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Balanced autosomal translocation and double Robertsonian translocation in cases of primary amenorrhea in an Indian population

Kopakka¹,

Dalvi²,

Shetty³

et al. 2011

Intl J Gynecology & Obste

View full text Add to dashboard Cite

show abstract

Cytogenetic Analysis of Patients with Primary Amenorrhea

Cited by 30 publications

References 7 publications

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

Balanced autosomal translocation and double Robertsonian translocation in cases of primary amenorrhea in an Indian population

Contact Info

Product

Resources

About