CHROMOSOME 9p DUPLICATION AND SHORT STATURE

A CASE REPORT

Abstract

INTRODUCTION
Chromosome 9p duplication, also referred to as partial duplication syndrome, is a rare chromosomal disorder with fewer than 200 cases reported worldwide. It is characterized by duplication of a segment of the short arm of chromosome 9 and is frequently associated with short stature, craniofacial dysmorphisms and intellectual disability.

CASE
We present the case of a 6-year-old male born at term via emergency lower segment cesarean section (EMLSCS) at 37 weeks due to intrauterine growth restriction (IUGR). Since infancy, he exhibited persistent failure to thrive and subtle dysmorphic features. His height and weight remained consistently below the 3rd percentile despite adequate nutritional intake. Physical and systemic examinations were otherwise unremarkable.

Initial workup, complete blood count, renal profile were normal, Hormonal work out showed the following: thyroid stimulating hormone: 5.36, free T4: 19.85, luteinizing hormone: <0.1 IU/L, follicular stimulating hormone: 1.23 IU/L, cortisol: 168.5 nmol/L growth hormone: 0.8 µg/L and IGF-1: 266.4 ng/mL. Gross karyotyping (46,XY) and radiological imaging yielded normal results. Chromosomal microarray analysis subsequently revealed a microduplication in the 9p12-p11.2 region, establishing the diagnosis of chromosome 9p duplication syndrome.

CONCLUSION
This case underscores the importance of considering chromosomal microduplication in children presenting with unexplained short stature and developmental concerns. The role of growth hormone therapy in this population remains uncertain due to limited evidence regarding its efficacy in this specific genetic condition.