An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.10536 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study.
Front Endocrinol (Lausanne)
March 2023
Department of Oncology-Pathology, Laboratory of Translational Fertility Preservation, Karolinska Institutet, Stockholm, Sweden.
Article Synopsis
- Scandinavian countries offer free fertility preservation programs for patients facing infertility risks, particularly those with Turner syndrome.
- A study at Karolinska University Hospital included 100 women, revealing trends in referrals for fertility counseling, with increased spontaneous menarche post-2006 due to changes in guidelines on who to refer.
- The study found that 39% of participants had monosomal karyotype and 73% planned to cryopreserve ovarian tissue; however, only 26% pursued fertility treatments, with limited successful outcomes, including six births through donated oocytes.
Pregnancy after in vitro fertilization in an elderly primigravida with Shereshevsky-Turner Syndrome: A case report.
Int J Reprod Biomed
January 2023
Klaipeda University Hospital, Klaipeda University, Lithuania.
Background: Shereshevsky-Turner Syndrome is a chromosomal condition that affects females owing to full or partial missing of X-monosomy in all or part of the body's cells. Shereshevsky-Turner Syndrome is characterized by severe hormonal disorders and defects of the cardiovascular and urinary systems. With the advent of assisted reproductive technology (ART), pregnancy has become more accessible for this group of cases, often with donor eggs.
View Article and Find Full Text PDFSex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks.
Syst Biol Reprod Med
August 2022
Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.
")," individuals with rearranged Y chromosome breaks in their 46,XY cells are reported with male and female gender phenotypes and differences in germ cell tumour (GCT) risk. This raised the question of whether male or female gender and GCT risk depends on the site of the break and/or rearrangement of the individual´s Y chromosome. In this paper, we report molecular mapping of the breakpoint on the aberrant Y chromosome of 22 individuals with a 45,X/46,XY karyotype reared with a different gender.
View Article and Find Full Text PDFKaryotype is associated with timing of ovarian failure in women with Turner syndrome.
J Pediatr Endocrinol Metab
March 2021
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology & Infertility, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
Objective: To characterize the age of ovarian failure in Turner Syndrome (TS) patients by karyotype.
Methods: Retrospective cohort study of individuals with TS at an academic university hospital. Subjects were seen in TS Clinic at UNC Hospital between 2014 and 2018.
Unusual association of turner syndrome and hypopituitarism in a Tunisian family.
Curr Res Transl Med
April 2018
Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia. Electronic address:
Purpose Of The Study: Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!