Chromosome duplication [14q] and the genotype phenotype correlation

The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features. The human chromosome 14 plays an important role in imprinting events importunes of a structural rearrangement is specifically when a phenotype is caused by imprinting, whereby the interpretation of genotype-phenotype correlation becomes extremely difficult. In this study, we examined a 3 year-old mentally impaired girl with unusual facial features. G-banding showed terminal duplication of chromosome 14 in the karyotype of the patient. In this particular case, we explained a phenotype genotype correlation in a patient with a dup [14] rearrangement, thus emphasizing the importance of prenatal diagnosis for pregnancies with an abnormal nuchal translucency

Cerebral vein thrombosis in women using short course oral contraceptive consumption

Muslim women tend to postpone their menstrual period using short course oral contraceptives [OC] during Ramadan, Muslims fasting month. Recently, many cases of stroke, particularly cerebral vein thrombosis [CVT], have been reported in Ramadan. This work studies the incidence of CVT and its relation to Ramadan. This is a cohort study conducted from October 2006 to October 2009 and included 4 consecutive Ramadan's. All patients with definite diagnosis of CVT who were referred to the neurology department of Ghaem Hospital, Mashhad, Iran in this four-year period were included in the study. During the study period, 70 cases with CVT [11 males and 59 females] were recruited. Twenty five cases were admitted during Ramadan months which was significantly higher than all the other 32 months [p=1.9×10[-7]]. The higher frequency of females [6 times more] among CVT cases probed by investigating possible risk factors and short term OC consumption was revealed as the major risk factor [p=0.00071]. Higher incidence of CVT in females during Ramadan suggests the presence of specific risk factors in this group. Our study revealed that short-term use of OCs may be a major risk factor for CVT