Turner syndromeis a sex chromosome disorder of sexual development with a 45,X karyotype. It results from loss of an X chromosome through nondisjunction, which characterizes approximately 60% of the individuals with the classic features of Turner syndrome (Box 11-1). The remaining 40% encompasses ...
we reanalyzed the data separately for the X chromosome p and q arms to detect additional cases with X chromosome abnormality causing Turner syndrome. We identified a total of five potential 46,X,i(Xq) cases, including the two that had a “Turner syndrome” ICD-10 code (Supplemental...
TransplantationIntroduction: Little is known about heart transplantation (HT) in patients with Turner syndrome (TS). Patients with TS and hypoplastic left heart syndrome (HLHS) have poor outcomes with single ventricle palliation. This study describes the experience and outcomes of HT in this ...