Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome

  title={Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome},
  author={Jie Chen and Miao Guo and M Luo and Shan Deng and Qinjie Tian},
  journal={Gynecological Endocrinology},
  pages={730 - 734}
  • Jie Chen, Miao Guo, +2 authors Q. Tian
  • Published 19 April 2021
  • Medicine
  • Gynecological Endocrinology
Abstract Objective To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC. Methods A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College Hospital from February 1984 to July 2020. Results Among the 244 patients with a disorder of sexual development, 69 cases… 


The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype
The majority of the sSMCs in patients with a mos 45,X/46,X,+mar karyotype were derived from the sex chromosomes, and the molecular cytogenetic features of sSSCs may provide useful information for genetic counseling, prenatal diagnosis and individualized treatment.
Y chromosome in Turner syndrome: review of the literature.
The risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique.
Current best practice in the management of Turner syndrome
The current best practice management recommendations for individuals with TS are reviewed focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities.
Disorders of sex development
Even with greater understanding of the genetic causes of disorders of sex development, the complex management of these patients must be individualized, considering all aspects, informing as age-appropriate the parents and patient.
Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences.
Immediate gonadectomy, long-term hormone therapy and psychological care are suggested to be the optimal management for older phenotypic female patients with Y chromosome or Y-derived sequences.
Y‐chromosome microdeletions in 45,X/46,XY patients
The presence of Y-chromosome microdeletions in the AZF regions both on PBLand gonadal-DNA from two patients with 45,X/46,XY karyotype was tested and showed a broad spectrum of clinical phenotype ranging from women with or without Turner syndrome phenotype and bilateral streak gonads.
Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature
Small supernumerary marker chromosomes (sSMC) can appear in a numerically normal ‘basic karyotype’, but also in a numerically abnormal one like a Turner syndrome karyotype (= sSMCT). Here we present
Small supernumerary marker chromosomes (sSMC) in humans
An overview of small supernumerary marker chromosomes is presented, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence and a short review of the up-to-date approaches available for sSMC characterization.
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridizations (array-CGH) might identify them to be more frequent than only ~0.9% among all sS MC.
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
An international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016, the present guidelines related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy.