A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis

<b>Introduction:</b> Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. <b>Case report:</b> Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. <b>Conclusion:</b> This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.

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Publication Details

Journal
Fetal and Pediatric Pathology
Published
2024-12-11
DOI
https://doi.org/10.1080/15513815.2024.2440465
Primary Topic
Congenital limb and hand anomalies
Type
article
Field-Weighted Citation Impact
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article

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis

Katia Margiotti, Maria Luce Genovesi, Alvaro Mesoraca, Marco Fabiani et al.
Fetal and Pediatric Pathology
Congenital limb and hand anomalies
article

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis

Katia Margiotti, Maria Luce Genovesi, Alvaro Mesoraca, Marco Fabiani, Antonella Cima, Claudio Giorlandino, Francesco Libotte
article en

Abstract

<b>Introduction:</b> Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. <b>Case report:</b> Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. <b>Conclusion:</b> This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.

Fetal and Pediatric PathologyVol. 44(1)
Bambino Gesù Children's Hospital (IT), ALTA (Italy) (IT), AltaMed (US), Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Zero hunger
Openalex Percentile: Top 79%
Congenital limb and hand anomalies
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