Turner syndrome Archives - The Association for X and Y Chromosome Variations

Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

What’s missing in sex chromosome aneuploidies? Representation and inclusion

Article Title: What’s missing in sex chromosome aneuploidies? Representation and inclusion

Authors: Mehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer

Date of Publication: January 2022

“Given that KS/TS happen by chance, theoretically, these rates should be similar across racial/ethnic groups. Namely, the rates of KS/TS should be similar among non-Hispanic Whites and Black, Indigenous, People of Color (BIPOC) communities. Currently, it is unknown to what extent HR-QoL has been examined in BIPOC communities affected by KS/TS. To provide culturally-informed care for all patients with KS/TS, it is critical to understand the experiences of BIPOC communities. We conducted a systematic review of the literature on HR-QoL in KS/TS to examine the extent that BIPOC communities have been included and represented in the literature to date.”

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Article Title: Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Authors: Tang, Lin, Guo, Hou, and Yu

Date of Publication: April 22, 2019

“FISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.”