Small Supernumerary Marker Chromosome: A Case Study from a Speech Language Pathologists Perspective

Prianka Evangeline, Castroleena J.

Abstract: Small Supernumerary Marker Chromosome (sSMC) is a rare genetic condition marked by the presence of an extra chromosome to the 46 human chromosomes. This case report describes a 4 year old child with sSMC on the 46th chromosome. The child presented with delayed speech and language development, seizures and mild developmental delay. Speech and Language evaluation was carried out and management options are discussed.

Keywords: marker chromosome, phenotypic abnormalities, de novo, genetic