title: A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: A case report and literature review.
abstract: In the present paper we report an extremely rare case of mosaicism of 45,X/47,XX,+13 in a 28-year-old women. The patient was referred for cytogenetic evaluation for secondary amenorrhoea. The patient was found to have some mild characteristic features of Turner syndrome such as wide carrying angle and short stature. Ultrasound examination revealed the presence of a small sized uterus and bilateral streak ovaries. G-banded chromosome analysis revealed a mosaic female karyotype involving two different cell lines. One cell line (72% of analysed metaphases) presented monosomy of X while the remaining 28% of cells showed trisomy of chromosome 13. Fluorescence in situ hybridization (FISH) with locus specific probe for trisomy 13 and CEP X for monosomy X substantiated the results obtained from karyotyping.
authors.affiliation: Dr. Lal Path Labs Pvt. Ltd., National Research Laboratory, Block E, Sector 18, Rohini, New Delhi 110085, India; Department of Biotechnology, Manav Rachna International University, Faridabad, Haryana, India.
authors.forename: Mohit
authors.initials: M
authors.lastname: Kumar
authors.affiliation: Dr. Lal Path Labs Pvt. Ltd., National Research Laboratory, Block E, Sector 18, Rohini, New Delhi 110085, India.
authors.forename: Vandana
authors.initials: V
authors.lastname: Lal
authors.affiliation: Department of Biotechnology, Manav Rachna International University, Faridabad, Haryana, India.
authors.forename: Shilpa
authors.initials: S
authors.lastname: Chapadgaonkar
authors.affiliation: Dr. Lal Path Labs Pvt. Ltd., National Research Laboratory, Block E, Sector 18, Rohini, New Delhi 110085, India.
authors.forename: Saurabh Kumar
authors.initials: SK
authors.lastname: Bhattacharya
keywords: FISH; Karyotype analysis; Trisomy 13; Turner syndrome