A case of trisomy 9 mosaicism syndrome

Abstract

Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can be presented by intrauterine growth retardation, mental retardation, craniofacial abnormalities, skeletal abnormalities, congenital heart defects and genital abnormalities. We experienced a neonate who had characteristic features of trisomy 9 syndrome with up-slanted eyes, low set ears, a bulbous nose, micrognathia, high arched palate, overlapping fingers and dislocation of hips. Chromosomal studies performed to confirm the trisomy 9 mosaicism revealed karyotype 47,XX, +9[4]/46,XX[26]. The patient survived more than 2 years after diagnosed with trisomy 9 mosaicism.