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

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: Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori, Masahide Goto, Toshihiro Tajima, Aiko Sasaki, Takayoshi Matsumura, Takanori Yamagata
Format: Article
Language:English
Published: Nature Publishing Group 2025-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-025-00314-2
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https://doi.org/10.1038/s41439-025-00314-2

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