Am J Med Genet A. 2025 Aug 6:e64198. doi: 10.1002/ajmg.a.64198. Online ahead of print.
ABSTRACT
Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections. Given the rarity of this disorder, information regarding its presentation comes from a limited number of case studies. In this study, we present three new cases of complete trisomy 5p and compare these cases to the literature. With the addition of these three cases, there are 15 cases of complete trisomy 5p reported in the literature to date. This work reviews common clinical features of this disorder, including neonatal hypotonia, talipes equinovarus, seizures, macrocephaly, and abnormal ears. Suggested clinical evaluations and other less common features are also discussed.
PMID:40767403 | DOI:10.1002/ajmg.a.64198
