<em>De novo</em> 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Libotte,Francesco; Libotte,Francesco; Fabiani,Marco; Fabiani,Marco; Margiotti,Katia; Margiotti,Katia; Carpineto,Lorena Sonia; Carpineto,Lorena Sonia; Monaco,Francesca; Monaco,Francesca; Raffio,Raffaella; Raffio,Raffaella; Mesoraca,Alvaro; Mesoraca,Alvaro; Giorlandino,Claudio; Giorlandino,Claudio

doi:10.3892/etm.2023.11799

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Authors:
- Francesco Libotte
- Marco Fabiani
- Katia Margiotti
- Lorena Sonia Carpineto
- Francesca Monaco
- Raffaella Raffio
- Alvaro Mesoraca
- Claudio Giorlandino
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Affiliations: Human Genetics Laboratory, Fetal‑Maternal Medical Centre, ALTAMEDICA, 00198 Rome, Italy
Published online on: January 16, 2023 https://doi.org/10.3892/etm.2023.11799
Article Number: 100
Copyright: © Libotte et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Chromosome 3q syndrome is a well‑known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalances; patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. The present study reported a prenatal diagnosis of a male fetus presenting ultrasound evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly have rarely been reported together. As the 12p13.33 microdeletion in the father was associated only with muscular hypotonia and joint laxity, the involvement of terminal 12p deletions in the clinical features of the fetus was not possible to verify during the prenatal period. The present case report may provide a reference for prenatal diagnosis and genetic counseling in patients who present 3q13q21.2 deletions and 12p13.33 microdeletion.

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