Article
An Unexpected Detection of the Rare 48,XXYY in the Prenatal Diagnosis of a Fetus with β-Thalassemia Major.
Clinical laboratory - 1 Oct 2024
Chen Wei, Ban Shaowen, Zhu Zhaoying, Chen Jie, Yu Yongxiong, Bai Jinping, Li Youqiong
Abstract excerpt
BACKGROUND: Thalassemia is a common monogenic disorder, and children with β-thalassemia major require regular blood transfusions and iron removal therapy. Klinefelter syndrome (KS) is a common sex chromosome abnormality, and 48,XXYY is rare. This report is the first to describe a fetus with a karyotype of 48,XXYY in prenatal diagnosis of β-thalassemia major. METHODS: Amniotic fluid was collected by puncture for...
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