Perinatology.  2020 Mar;31(1):44-49. 0.14734/PN.2020.31.1.44.

Terminal Deletion of the Chromosome 4q with Hemivertebra: Case Report

• Ko SH
• Lee HJ
• Kim CR
• Park HK
• Ahn JH

• KMID: 2507510
• DOI: http://doi.org/0.14734/PN.2020.31.1.44

Abstract

The terminal deletion of the long arm of chromosome 4 is a very rare autosomal abnormality with an approximate incidence of 1 in 100,000 and overall mortality of 28%. This syndrome is characterized by craniofacial and digital anomalies, developmental delay, growth retardation, skeletal and cardiac anomalies, and autism spectrum disorder. We experienced a case of the terminal deletion of the long arm of chromosome 4 in a 2 day-old female neonate who showed developmental delay, craniofacial anomalies, skeletal and extremity defects, and cardiovascular defects. Here, we first report hemivertebra in an infant with terminal deletion of chromosome 4q and discussion previous case with a brief review of the literature.

Keyword

Chromosome 4q-syndrome; Chromosome 4q-syndrome; Terminal deletion syndrome; Terminal deletion syndrome; Chromosome 4; Chromosome 4; Hemivertebra; Hemivertebra