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Unique Case Reports Associated with Ovarian Failure : Necessity of Two Intact X Chromosomes
Joint Authors
Rao Kandukuri, Lakshmi
Swapna, Mangalipally
Saranaya, Govindaraghavan
Himaja, Kattera
Deenadayal, Mamata
Gupta, Nalini
Turlapati, Raseswari
Padmalatha, Venkata
Nallari, Pratibha
Singh, Lalji
Deb, Prasun
Chakraborthy, Baidyanath
Vidyadhari, Metuku
Kanakavalli, Murthy
Kumar Sethi, Bipin
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-04-11
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rao Kandukuri, Lakshmi& Padmalatha, Venkata& Kanakavalli, Murthy& Turlapati, Raseswari& Swapna, Mangalipally& Vidyadhari, Metuku…[et al.]. 2012. Unique Case Reports Associated with Ovarian Failure : Necessity of Two Intact X Chromosomes. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-487427
Modern Language Association (MLA)
Rao Kandukuri, Lakshmi…[et al.]. Unique Case Reports Associated with Ovarian Failure : Necessity of Two Intact X Chromosomes. Case Reports in Genetics No. 2012 (2012), pp.1-8.
https://search.emarefa.net/detail/BIM-487427
American Medical Association (AMA)
Rao Kandukuri, Lakshmi& Padmalatha, Venkata& Kanakavalli, Murthy& Turlapati, Raseswari& Swapna, Mangalipally& Vidyadhari, Metuku…[et al.]. Unique Case Reports Associated with Ovarian Failure : Necessity of Two Intact X Chromosomes. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-487427
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-487427