Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Split-hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition. © 2024 Wiley Periodicals LLC.

Citation

Nitika Langeh, Mohammed Tahir Ansari, Madhulika Kabra, Neerja Gupta. Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India. American journal of medical genetics. Part A. 2024 May;194(5):e63520

Mesh Tags

PMID: 38168117

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