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Background <p>Xq28 duplications are a significant cause of X-linked intellectual disability (XLID). While the postnatal features of distal Xq28 duplication syndrome are well characterized, the prenatal phenotypes remain poorly defined due to limited data, posing challenges for genetic counseling.</p> Case presentation <p>We identified three fetuses carrying 454–558&#xa0;kb distal Xq28 microduplications through chromosomal microarray analysis (CMA) from 13,084 prenatal cases at our center. The primary indications for diagnosis were abnormal ultrasound findings. Case 1 (male) and case 3 (female) exhibited nasal bone hypoplasia. Case 2 (male) showed increased nuchal translucency (NT) and a persistent right umbilical vein. After genetic counseling, two couples chose to terminate their pregnancies, while one couple continued the pregnancy and delivered a healthy child.</p> Conclusion <p>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.</p>

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Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月1日

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  • Yuanyuan Zhang,
  • Fagui Yue,
  • Ruizhi Liu

摘要

Background

Xq28 duplications are a significant cause of X-linked intellectual disability (XLID). While the postnatal features of distal Xq28 duplication syndrome are well characterized, the prenatal phenotypes remain poorly defined due to limited data, posing challenges for genetic counseling.

Case presentation

We identified three fetuses carrying 454–558 kb distal Xq28 microduplications through chromosomal microarray analysis (CMA) from 13,084 prenatal cases at our center. The primary indications for diagnosis were abnormal ultrasound findings. Case 1 (male) and case 3 (female) exhibited nasal bone hypoplasia. Case 2 (male) showed increased nuchal translucency (NT) and a persistent right umbilical vein. After genetic counseling, two couples chose to terminate their pregnancies, while one couple continued the pregnancy and delivered a healthy child.

Conclusion

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.