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Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.
Sao Paulo Med J
April 2023
PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.
Background: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.
Objectives: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA.
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.
Mol Cytogenet
February 2021
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412.
Background: Turner's syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner's syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.
View Article and Find Full Text PDFFertility issues and pregnancy outcomes in Turner syndrome.
Fertil Steril
July 2020
Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
Objective: To study fertility issues and pregnancy outcomes in Turner syndrome (TS).
Design: Retrospective cohort study.
Setting: Not applicable.
A Novel Sex Chromosome Mosaicism 45,X/45,Y/46,XY/46,YY/47,XYY Causing Ambiguous Genitalia.
Ann Clin Lab Sci
November 2017
Translational Research Institute, School of Medicine, Henan Provincial People's Hospital, Henan University, Zhengzhou, China
Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia. 45,X/46,XX, 45,X/46,XY and 46,XY/47,XXY are three most common sex chromosome mosaics associated with human ambiguous genitalia. Here, we report the case of a 3-year-old boy with ambiguous genitalia, bilateral cryptorchidism, and with an inguinal hernia.
View Article and Find Full Text PDFA unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
Syst Biol Reprod Med
October 2016
a Department of Medical Genetics and.
Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal.
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