الفهرس 
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Abstract
TS is the only chromosomal monosomy compatible with life. It is a relatively common disorder, with an incidence of one birth in1500-2000 live births although it has been estimated that only about 1% of 45,X fetuses survive to term and that as many as 10% of spontaneous miscarriages have a 45,X karyotype.
Our study included 25 female children fulfilling the clinical and diagnostic criteria of turner syndrome attending the genetics out patient clinic at Alexandria university children’s hospital (there were 7 new cases, three presented by edema of hand and feet, one by short stature and two by delayed puberty.)
All cases were subjected to history taking and detailed clinical examination involving physical stigmata of turner syndrome and associated problems, ultrasound abdomen and pelvis and echo cardiography.venous blood samples were withdrawn for karyotype and FISH analysis.
The age of studied cases ranged from six month to seventeen years, most of the girls (76%) were short for age inspite of that the majority (84%) had normal weight for height.
Consanguinity was reported in families of near one third of cases (28%). Parental ages at conception were not advanced in both mothers and fathers of most of the cases. Great percentage of the females (84%) developed normally as regard gross motor and language aspects with near normal mentality in most of them however some girls (28%) had educational difficulties and immaturity.
About one third of cases (28%) were receiving growth hormone treatment which started late in most of them which adversely affected their gain in height.
Physical stigmata of TS was detected in 68% of cases, congenital heart disease in 32%, and 12 % had repeated middle ear infections.
Regarding cytogentics, Eight cases (32%) were diagnosed as monosomic for the X chromosome by karyotype, three of them (12%) only proved by FISH analysis whereas the rest five cases (20%) were proved to be mosaic by FISH, mean while FISH technique did not detect structural X chromosome abnormalities (isochromosome) diagnosed in 16% of cases by karyotype which was seen as normal X chromosome signal by FISH. FISH analysis detected the marker chromosome observed in the karyotype of 3 cases to be X chromosome in origin. No Y chromosome or Y chromosome fragments had been detected by karyotype or FISH technique.
The three cases of monosomy X confirmed by G-banding karyotype and FISH analysis are namely cases no. 1,4 and 16. They all had short stature, micrognathia, high arched palate, short neck, low hair line, broad chest widely spaced nipples and short 4th metacarpal. Adittionally all of them had near normal mentality and small uterus in pelvic ultrasound.