Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
Abstract 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...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2025-05-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-025-00314-2 |
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| _version_ | 1849688356020027392 |
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| author | Hiroko Wakabayashi Ayumi Matsumoto Sakiko Komori Masahide Goto Toshihiro Tajima Aiko Sasaki Takayoshi Matsumura Takanori Yamagata |
| author_facet | Hiroko Wakabayashi Ayumi Matsumoto Sakiko Komori Masahide Goto Toshihiro Tajima Aiko Sasaki Takayoshi Matsumura Takanori Yamagata |
| author_sort | Hiroko Wakabayashi |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-364033ffabe44a289d4d7407ae13930b |
| institution | DOAJ |
| issn | 2054-345X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-364033ffabe44a289d4d7407ae13930b2025-08-20T03:22:01ZengNature Publishing GroupHuman Genome Variation2054-345X2025-05-011211410.1038/s41439-025-00314-2Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephalyHiroko Wakabayashi0Ayumi Matsumoto1Sakiko Komori2Masahide Goto3Toshihiro Tajima4Aiko Sasaki5Takayoshi Matsumura6Takanori Yamagata7Division of Clinical Trial, Clinical Investigation Center, Jichi Medical University HospitalDivision of Cardiovascular and Genetics Research, Center for Molecular Medicine, Jichi Medical UniversityDepartment of Pediatrics, Jichi Medical UniversityDepartment of Pediatrics, Jichi Medical UniversityDepartment of Pediatrics, Jichi Medical UniversityDivision of Obstetrics, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, Center for Medical Genetics, National Center for Child Health and DevelopmentDivision of Cardiovascular and Genetics Research, Center for Molecular Medicine, Jichi Medical UniversityDepartment of Pediatrics, Jichi Medical UniversityAbstract 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.https://doi.org/10.1038/s41439-025-00314-2 |
| spellingShingle | Hiroko Wakabayashi Ayumi Matsumoto Sakiko Komori Masahide Goto Toshihiro Tajima Aiko Sasaki Takayoshi Matsumura Takanori Yamagata Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly Human Genome Variation |
| title | Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| title_full | Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| title_fullStr | Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| title_full_unstemmed | Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| title_short | Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| title_sort | partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly |
| url | https://doi.org/10.1038/s41439-025-00314-2 |
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