P702: Utilizing chromosomal microarray to investigate a complex Turner syndrome karyotype with a mild clinical presentation
Abstract
Following this diagnosis, the patient underwent recommended screening including ultrasounds of the kidney and heart, which were all normal. The patient has begun estrogen replacement therapy to treat the delays in puberty and sex development.
Fields of Study & Subjects
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sexual Differentiation and Disorders
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104192–104192
- Publication date
- 1 January 2026
- Language
- EN