Heterozygous Deletion of 10q24.31-q24.33: A New Syndrome Associated with Multiple Congenital Anomalies

Abstract excerpt

This study reports a 14-year-old male patient with multiple congenital anomalies, including hypospadias, complete cleft palate, and recurrent pneumonia. His clinical presentation includes significant physical and intellectual developmental delays, autism-like symptoms, and spastic diplegia. Whole-exome sequencing (WES) was performed due to these complex symptoms, revealing a novel heterozygous deletion on chromoso...

Topics

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• Abnormalities, Multiple
• Chromosomes, Human, Pair 3
• Craniofacial Abnormalities
• Developmental Disabilities
• Exons
• Genomic variations and chromosomal abnormalities
• Mannose-Binding Protein-Associated Serine Proteases
• Syndrome

Identifiers and source

Literature Corpus work

76c865b4-6d58-5550-9d53-d6a10aab528a

DOI

10.20944/preprints202411.0646.v1