Neeraja T Koppaka 1 , Shital K Virulkar 2 , Deepak S Chavan 1 , Rupa C Dalvi 1 , Neelam Gupta 1 , Swarna Mandava 1 Show Affiliations »
Abstract
OBJECTIVE: To verify the prevalence of chromosomal abnormalities in women with primary amenorrhoea in India aiming at appropriate genetic counselling. METHODS: In a 16-year retrospective (2001-2016) study, 3776 women with primary amenorrhoea were evaluated. Chromosomal analysis of all the cases was done by GTG banding. Clinical history and other laboratory findings were taken into consideration to determine the diagnosis. RESULTS: The karyotype results revealed 31.2% cases with chromosomal abnormalities (n = 1177/3776). In patients with abnormal chromosome complement, 31.2% exhibited numerical aberrations (n = 367) and 34.9% with structural aberrations (n = 411). About 33.9% of cases were with XY male karyotype (n = 399). CONCLUSION: As per the literature till date, this study is the largest with high incidence of chromosomal abnormalities; early detection of abnormalities is necessary for guidance to reproductive management and genetic counselling. © Federation of Obstetric & Gynecological Societies of India 2019.
OBJECTIVE: To verify the prevalence of chromosomal abnormalities in women with primary amenorrhoea in India aiming at appropriate genetic counselling. METHODS: In a 16-year retrospective (2001-2016) study, 3776 women with primary amenorrhoea were evaluated. Chromosomal analysis of all the cases was done by GTG banding. Clinical history and other laboratory findings were taken into consideration to determine the diagnosis. RESULTS: The karyotype results revealed 31.2% cases with chromosomal abnormalities (n = 1177/3776). In patients with abnormal chromosome complement, 31.2% exhibited numerical aberrations (n = 367) and 34.9% with structural aberrations (n = 411). About 33.9% of cases were with XY male karyotype (n = 399). CONCLUSION: As per the literature till date, this study is the largest with high incidence of chromosomal abnormalities; early detection of abnormalities is necessary for guidance to reproductive management and genetic counselling. © Federation of Obstetric & Gynecological Societies of India 2019.
Entities: Chemical
Keywords:
Autosome–autosome translocations; Balanced translocations; Genetic counselling; Mosaicism; Primary amenorrhoea
Year: 2019
PMID： 31598050 PMCID： PMC6765040 DOI： 10.1007/s13224-019-01209-3
Source DB: PubMed Journal: J Obstet Gynaecol India ISSN： 0975-6434