The italian man who went to malta no cursing
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Improvement of prenatal care in case of fetal anomaly of the corpus callosum using exome sequencing during the pregnancy S. We emphasize the difficulties of genetic counseling in the inheritance and the incomplete penetrance of the aberrations. Our results highlight the importance of microarray analysis in the diagnostic refinement of pregnancies which are abnormal in early fetal screening.
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The indications for aCGH prenatal diagnosis were: 1) ultrasound data for unilateral cleft lip and palate in combination with an increased nuchal translucency of 3.3 mm- mother was the carrier 2) second pregnancy after the first case 3) increased risk from the biochemical screening (1:6) and tricuspid regurgitation, brother with neuropsychiatric disability - mother was a carrier 4) Increased NT of 7.3 mm. We report 4 cases of prenatally established 15q11.2 microdeletion, in 3 of the cases the microdeletion was inherited from clinically healthy mothers. The penetrance of 15q11.2 microdelection syndrome is estimated at 10.4%, which is significantly higher in de novo occurrence. However, not all of the deletion carriers have a clinical manifestation - it is found in 0.25% of the population of healthy controls. This microdeletion was found in 0.57-1.27% of pediatric patients targeted for microarray analysis, mainly with developmental delay and intellectual deficits. It is a multisystemic disease affecting mostly the nervous system (intellectual deficits, delayed psychomotor development, ataxia, epilepsy, behavioral problems, etc.), followed by congenital heart defects and various dysmorphisms. Microdeletion in 15q11.2 has been described as a distinct syndrome encompassing an area between two fragile sites in 15q (BP1 and BP2), with approximately 500 bp size, containing NIPA1, NIPA2, TUBGCP5, and CYFIP1 genes. Sofia”, Sofia, Bulgaria, 5University Hospital "Lozenetz", Sofia, Bulgaria, 6Center of Molecular medicine, Medical University of Sofia, Sofia, Bulgaria Clinic, Sofia, Bulgaria, 4First Specialized Hospital of Obstetrics and Gynecology „St. Ivan Rilski”, Department of Immunology, Medical University of Sofia, Sofia, Bulgaria, 3O.S.С.A.R. Dimova 1,6 1SAGBAL „Dr Shterev“, Sofia, Bulgaria, 2University Hospital “St. Prenatal diagnostics of 15q11.2 microdeletion syndrome - the possibilities and challenges K. P01 Reproductive Genetics/Prenatal Genetics