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

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 monoso...

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Published inHuman genome variation Vol. 12; no. 1; pp. 10 - 4
Main Authors Wakabayashi, Hiroko, Matsumoto, Ayumi, Komori, Sakiko, Goto, Masahide, Tajima, Toshihiro, Sasaki, Aiko, Matsumura, Takayoshi, Yamagata, Takanori
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 30.05.2025
Springer Nature B.V
Nature Publishing Group
Subjects
692/699/375/2764
692/699/375/361
Age
Biomedical and Life Sciences
Biomedicine
Child development
Chromosomes
Data Report
Gene Expression
Gene Function
Gene Therapy
Genes
Genomic analysis
Hernias
Holoprosencephaly
Human Genetics
Hybridization
Hybridization analysis
Intellectual disabilities
Magnetic resonance imaging
Molecular Medicine
Monosomy
Nervous system
Ostomy
Patients
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Summary: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.
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00314-2