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Introduction <p>To report the prenatal diagnosis and follow-up of a fetus with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.</p> Case report <p>A fetus diagnosed with mosaic T9p at Shaoxing Maternal and Child Health Hospital in February 2022 was selected as the study subject. The amniotic fluid karyotype was 47,XY,+i(9)(p10)[3]/46,XY[97]. CNV-seq revealed a 70.56&#xa0;Mb copy number gain in 9p24.3q21.11 (mosaicism at 6%). After genetic counseling, the parents opted to continue the pregnancy. A 3.9&#xa0;kg male fetus was delivered at full term with normal physical findings at birth. The baby was phenotypically normal and had normal psychomotor and language development at 3 years old, at our last postnatal follow-up. When the child was 3 years old, his physical measurement parameters (height: 97&#xa0;cm; weight: 14&#xa0;kg) and neurodevelopment milestones all met the age standards. His peripheral blood karyotype was 47,XY,+i(9)(p10)[10]/46,XY[90], with CNV-seq analysis indicating a 39.16&#xa0;Mb copy number gain in the 9p24.3p13.1 region (mosaicism at 53%). This discrepancy with the amniotic fluid CNV-seq results was attributed to differences in segmentation algorithms or software. FISH detected T9p mosaicism in oral mucosa (11.2%) and urinary sediment cells (12.7%). A synthesis of data from karyotype analysis, CNV-seq, and FISH collectively substantiates the presence of an acquired alteration within the 9p region, while the evidence does not support the extension of this fragment across the centromere of chromosome 9 into the q arm.</p> Conclusion <p>The combined use of various methods may be capable of more accurately determining break-points and mosaic levels of T9p during prenatal diagnosis. This enriches the clinical spectrum of T9p mosaicism and provides a basis for prenatal diagnosis and genetic counseling of children with this type of chromosome variation.</p>

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Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月15日

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  • Lifang Zhang,
  • Feiyan Qian,
  • Weiping Chen,
  • Jiaming Fan,
  • Yan Zeng,
  • Tingting Luo,
  • Ming Che,
  • Bin Yu,
  • Tao Zhang

摘要

Introduction

To report the prenatal diagnosis and follow-up of a fetus with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.

Case report

A fetus diagnosed with mosaic T9p at Shaoxing Maternal and Child Health Hospital in February 2022 was selected as the study subject. The amniotic fluid karyotype was 47,XY,+i(9)(p10)[3]/46,XY[97]. CNV-seq revealed a 70.56 Mb copy number gain in 9p24.3q21.11 (mosaicism at 6%). After genetic counseling, the parents opted to continue the pregnancy. A 3.9 kg male fetus was delivered at full term with normal physical findings at birth. The baby was phenotypically normal and had normal psychomotor and language development at 3 years old, at our last postnatal follow-up. When the child was 3 years old, his physical measurement parameters (height: 97 cm; weight: 14 kg) and neurodevelopment milestones all met the age standards. His peripheral blood karyotype was 47,XY,+i(9)(p10)[10]/46,XY[90], with CNV-seq analysis indicating a 39.16 Mb copy number gain in the 9p24.3p13.1 region (mosaicism at 53%). This discrepancy with the amniotic fluid CNV-seq results was attributed to differences in segmentation algorithms or software. FISH detected T9p mosaicism in oral mucosa (11.2%) and urinary sediment cells (12.7%). A synthesis of data from karyotype analysis, CNV-seq, and FISH collectively substantiates the presence of an acquired alteration within the 9p region, while the evidence does not support the extension of this fragment across the centromere of chromosome 9 into the q arm.

Conclusion

The combined use of various methods may be capable of more accurately determining break-points and mosaic levels of T9p during prenatal diagnosis. This enriches the clinical spectrum of T9p mosaicism and provides a basis for prenatal diagnosis and genetic counseling of children with this type of chromosome variation.