Case reports reveal diverse prenatal phenotypes in fetuses with distal Xq28 duplications, suggesting the need for further studies.
Distal Xq28 duplications would present diverse prenatal phenotypes, ranging from normal to abnormal. Skeletal anomalies are the most common prenatal features in symptomatic fetuses with this duplication. Prenatal diagnosis and genetic counseling are essential for providing clinical guidance to the affected families. The correlation between prenatal ultrasound findings and the distal Xq28 duplications requires further investigation in larger cohorts.
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Zhang et al. (2026) studied this question.
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