RESUMO
BACKGROUND: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. CASE PRESENTATION: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region. CONCLUSIONS: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.
RESUMO
The purpose of the study was to estimate the capacities of digital mammography in screening in women followed up by a mammologist in the Surgut Clinical Perinatal Center. The results of analog and digital mammography were compared using a Senographe DS in 1772 subjects who had been followed up by a mammologist in the Surgut Clinical Perinatal Center for 3-7 years. Females in whom mammography was first made as a basic study on a digital mammography were identified in an individual group of 887 subjects. Analysis of the capacities of analog and digital mammography indicated many advantages of the latter.
