HETEROKARYOTIC MONOZYGOTIC TURNER TWINS: AN INTERESTING PRESENTATION.

Acta Endocrinol (Buchar)

Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.

Published: January 2025

Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac. To the best of our knowledge, our cases were the first defined heterokaryotic monozygotic twins with isochromosome Xq 46,X,i(X)(q10) and Xq mosacism (46,X,i(X)(q10;q10)[42]/47,X,i(X)(q10;q10)x2[8]).

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750213PMC
http://dx.doi.org/10.4183/aeb.2024.244DOI Listing

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