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Case Report

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

1
ALTAMEDICA, Human Genetics Lab, Viale Liegi 45, 00198 Rome, Italy
2
Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy
3
Fetal-Maternal Medical Centre, Department of Prenatal Diagnosis, Altamedica, Viale Liegi 45, 00198 Rome, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Tomaiuolo Rossella
Genes 2021, 12(10), 1626; https://doi.org/10.3390/genes12101626
Received: 10 September 2021 / Revised: 8 October 2021 / Accepted: 13 October 2021 / Published: 16 October 2021
(This article belongs to the Section Cytogenomics)
The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes. View Full-Text
Keywords: prenatal diagnosis; 4q deletion; array-CGH; variant of unknown significance; genetic counseling prenatal diagnosis; 4q deletion; array-CGH; variant of unknown significance; genetic counseling
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MDPI and ACS Style

Libotte, F.; Fabiani, M.; Margiotti, K.; Viola, A.; Mesoraca, A.; Giorlandino, C. Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication. Genes 2021, 12, 1626. https://doi.org/10.3390/genes12101626

AMA Style

Libotte F, Fabiani M, Margiotti K, Viola A, Mesoraca A, Giorlandino C. Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication. Genes. 2021; 12(10):1626. https://doi.org/10.3390/genes12101626

Chicago/Turabian Style

Libotte, Francesco, Marco Fabiani, Katia Margiotti, Antonella Viola, Alvaro Mesoraca, and Claudio Giorlandino. 2021. "Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication" Genes 12, no. 10: 1626. https://doi.org/10.3390/genes12101626

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