J Genet Med.  2014 Jun;11(1):36-39. 10.5734/JGM.2014.11.1.36.

Clinical characterization of a Korean case with 3p25 deletion

• Lee HJ
• Kim JH
• Cho JH
• Lee BH
• Choi JH
• Yoo HW

• KMID: 1737962
• DOI: http://doi.org/10.5734/JGM.2014.11.1.36

Abstract

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

Keyword

Chromosome 3; Congenital abnormalities; Intellectual disability

MeSH Terms

Arm
Child, Preschool
Chromosomes, Human, Pair 3
Congenital Abnormalities
Female
Heart Defects, Congenital
Humans
Infant, Low Birth Weight
Infant, Newborn
Intellectual Disability
Korea
Phenotype