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<p>Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-q21.3 deletions. So far, nine cases of monosomy 18p with an unbalanced translocation (18;21) have been reported, four of which presented with HPE. Our case provides a detailed long-term clinical course and helps us to better understand these rare genetic events.</p>

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Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly

  • 期刊论文

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  • 发表日期：

    2025年5月30日

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  • Hiroko Wakabayashi,
  • Ayumi Matsumoto,
  • Sakiko Komori,
  • Masahide Goto,
  • Toshihiro Tajima,
  • Aiko Sasaki,
  • Takayoshi Matsumura,
  • Takanori Yamagata

摘要

Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-q21.3 deletions. So far, nine cases of monosomy 18p with an unbalanced translocation (18;21) have been reported, four of which presented with HPE. Our case provides a detailed long-term clinical course and helps us to better understand these rare genetic events.