Indications for referral of Turner's syndrome cases diagnosed prenatally

We performed a retrospective study of 17 Turner's syndrome (TS) cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultra-sonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Down's syndrome and fetal growth retardation. A 45,X non-mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively

Angiotensin Converting Enzyme Gene Polymorphisms In Male Infertility

The aim of this study was to investigate the frequency of Angiotensin Converting Enzyme (ACE) polymorphism in patients with oLigospermia or azoospermia and to compare the frequency of polymorphism with the control group which included the men who hail a child within 5 years. ACE insersion (I) / deletion (D) polymorphism was investigated at 132 men; 71 of them were diagnosed as azoospermia, 31 of them were diagnosed were oligospermia and 30 of them were healthy control. Analysis revealed that azoospermic, oligospermic and controls in terms of polymorphisms, genotype and allele frequencies, the differences were not significant and were no deviations from the Hardy-Weinberg equilibrium. The DD polymorphism ratio was found to he low (27.5%, p<0.05) in the individuals diagnosed with oligospermia in comparison to normal and azoospermic males; however, this difference was not istatistically significant and it was attributed to sampling size could have provided significant relationship