الفهرس 
Review of LiteratureOnly 14 pages are availabe for public view
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Abstract
Introduction: Short stature is a fairly frequent disorder. It is a heterogeneous condition and making a diagnosis can be extremely difficult. Many different genetic etiologies of short stature are known. Therefore, chromosomal as well as molecular analysis are requisite diagnostic investigations in short stature. Aim of the work: The aim of this study was to throw more light on chromosomal causes of short stature and improve early detection and management by studying chromosomal abnormalities in phenotypically normal female with short stature with no other phenotypic symptoms. Establishing a diagnosis of chromosomal disorders may be of great prognostic importance and is necessary for accurate genetic counseling Methods: Sixty two female children (58 with short stature and 4 control) were subjected to chromosomal analysis using Gbanding analysis and karyotyping of peripheral blood lymphocyte culture, GH assay and thyroid hormone assay. Selected cases with chromosomal abnormalities were subjected to Fluorescence in situ hybridisation (FISH) analysis. Results: Nine of the cases with short stature (16%) showed chromosomal abnormalities, 14 showed growth hormone abnormalities, 16 showed thyroid hormone deficiency, and 27 were normal for all investigations done. The latter group may be included under the category of idiopathic short stature. Out of the 9 cases with chromosomal abnormalities, 5 showed pure monosomy X. One was mosaic and 3 with structural abnormalities (one had isochromosome of the long arm and 2 with complete deletion of the short arm of the X chromosome). Conclusions: Short stature may be the only symptom or sign in girls with Turner syndrome especially prepubertally. It is not necessary to exclude other causes of short stature such as growth hormone deficiency or thyroid hormone deficiency before considering chromosomal abnormalities. Karyotyping should be done to any female of short stature with relatively normal body proportions to exclude Turner syndrome or to detect chromosomal anomaly if any since establishing a diagnosis make it possible to provide an accurate prognosis and genetic counseling. The use of advanced molecular techniques as FISH technique, in conjunction with Gbanding technique for more complete diagnosis of obscure chromosomal abnormalities