P702: Utilizing chromosomal microarray to investigate a complex Turner syndrome karyotype with a mild clinical presentation

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Authors: Wesley M. Stansberry, Deborah M. Hazard, Peter M. Brzeskiewicz, Kristy Crooks, Stephen Wicks
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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