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...
Turner syndromeis one of the most common sexchromosomal anomalies, characterized by the complete or partial loss of oneX chromosome. Females withTurner syndromeare characterized by skeletal abnormalities, short stature and primaryovarian insufficiency. The aim of this narrative review was to identify the...
Females with 45,X/46,XY fall under the Turner syndrome diagnosis but males do not. Aim: To investigate the comorbidity pattern in a national cohort of males with 45,X/46,XY. Methods: Morbidity were investigated using Cox regression analysis on administratively longitudinally collected registry ...
Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not ...
We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview—...
We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/ International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview - ...