Prothrombin G20210A mutation in women with preeclampsia in Alexandria

The etiology and pathogenesis of preeclampsia remain unknown but it has been proposed that genetic predisposition to coagulation abnormalities contributes to the development of preeclampsia by increasing the thrombotic tendency. This study was conducted to estimate one of the thrombosis variant, prothrombin G20210A mutation, as a risk factor for preeclampsia. One hundred and seventeen preeclamptic women and 102 normal control group were included in this study, both groups were in the 3[rd] trimester of pregnancy. A positive association was found between maternal age over 35 years [OR = 8; Cl: 1.54-44.23], previous preeclampsia [OR = 6.34; Cl: 2.16-19.96], positive family history of hypertension [OR 3.44; Cl: 1.28-9.60], diabetes mellitus [OR = 10.14; Cl: 1.24-221.181, history of recurrent abortions [OR = 24.05; Cl: 1.39-416.94], intrauterine fetal death [OR = 19.50; Cl: 1.11-342.65], and fetal anomalies [OR 8.42; Cl: 1.06-180.0] and preeclampsia. The frequency of heterozygous carriers of the prothrombin G20210A mutation in preeclamptic women [6.8%] was higher than that in controls [2.9%], but the difference was statistically non-significant. However, the frequency of prothrombin mutation was statistically higher in severe preeclamptic women [14.7%] compared to women with mild preeclampisa [3.6%] [P<0.05]. This indicated that prothrombin mutation is associated with severe preeclampsia and worsens the prognosis of the disease

Cytogenetic abnormalities among children with genetic disorders attending the genetic clinic in Alexandria

A total of 316 children referred to the Genetics clinic, Medical Research Institute, Alexandria, were assessed to classify and estimate the proportion of cytogenetic abnormalities. It was found that 184 patients [58%] had genetic disorders, 65 of whom [35.3%] had chromosomal abnormalities. Abnormalities of autosomes represented 95.4% [62/65] while those of sex chromosomes were 4.6% [3/65]. The chromosomal numerical abnormalities were trisomies [trisomy 21, trisomy 18, trisomy 13 and trisomy 10 in 27.6%, 9.2%, 6.15% and 1.5% of cases respectively] and supernumerary marker chromosomes in 9.2% of cases. In structural chromosomal aberrations of autosomes, deletions and inversions each represented 10.8%, translocations 6.2%, duplications 4.6%, multiple breaks 4.6%, centromere separation 3%, and ring chromosome 1.54%. Sex chromosome anomalies included one case of polysomy X, one of monosomy X and one case had ring X chromosome. The non chromosomal groups [64.7%] were in the form of single gene disorders [40.2%], multifactorial [4.9%], sporadic cases [16.3%] and teratogenic agents [3.3%] respectively. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders and to permit for proper genetic counseling