Year: 2013
Type: article
Study design: Case Report
Abstract: Triple-X syndrome (47,XXX) is one of the most common aneuploidies. Most 47,XXX patients present with a normal phenotype except a tall stature. In 90% of the cases, additional X chromosome is of maternal origin. Additional X chromosome cannot explain phenotypic findings in triple X syndrome. Situs inversus totalis, resulting from an error during embryonic process, is characterized with complete mirror image transposition of abdominal and thoracic viscera. According to our best knowledge, an association of the triple-X syndrome and situs inversus totalis has not been described in the literature. In this article, we report a 9-month-old female with situs inversus totalis and 47,XXX karyotype.
Authors: Mevlit İKBAL, Hatice KOÇAK EKER, Tülay TOS, Alper Han ÇEBİ, Muhammed Yunus ALP
Institution: Karadeniz Technical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W2016353608