Phenotypic implications of cytogenetic findings in female patients with short ststure turner and noonan syndromes

ABSTRACT

This study included 37 females with short stature and/or delayed puberty. They were subjected to complete clinical genetic examination, X-rays, cytogenetic analysis and anthropometric measurements, which included 14 measurements and 8 derived indices. Patients with structural abnormality of X chromosome [22.6%] showed mild phenotypic manifestations, while the mosaic group [32.3%] exhibited a phenotype moderate in severity. Analysis of the anthropometric measurements and indices showed that TS had an abnormal growth pattern more evident in pure TS and mosaic groups. Comparison between patients with TS [83.8%] and Noonan syndrome [16.2%] showed that both had tendency to growth retardation with similar growth pattern in the 2 conditions. Early diagnosis, assessment of growth with follow up will aid in both management and genetic counseling in Turner and Noonan syndromes