We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to esta...

Some plant microRNAs have been shown to be de novo generated by inverted duplication from their target genes. Subsequent duplication events potentially generate multigene microRNA families. Within this article we provide supportive evidence for the inverted duplication model of plant microRNA evolution. First, we report that the precursors of four Arabidopsis thaliana microRNA families, miR157,...

We report a 12-year-old boy referred to the Clinical Genetics service in view of facial dysmorphism, learning difficulties and autistic spectrum disorder. 60K arrayCGH revealed an 8.2-Mb duplication on chromosome 13q31.3q32.3, which was paternally inherited. This specific duplication on chromosome 13 has not been previously reported in the medical literature, and there are no familial or de nov...

Sangeetha. B Department of computer science, Anna University, Chennai-63, Tamilnadu, India E-mail: [email protected] Mr.E.S.K.Vijay Anand Assistant Professor, Anna University, Chennai-63, Tamilnadu, India E-mail: [email protected] -------------------------------------------------------------------ABSTRACT--------------------------------------------------------------Cloud computin...

background: complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. complete colonic duplication can occur in 15% of gastrointestinal duplication. we report two cases of complete colonic duplications, and their characteristics. case presentation: we present two patients with complete colonic duplication with differ...

Background: The aim of the present study was to examine the frequency and the phenotypic manifestations in a FrenchCanadian population with a chromosome 17pl 1.2 duplication (Charcot-Marie-Tooth type 1A, CMT-1 A). Methods: Molecular analysis were performed by Southern blot using pVAW409R3a probe. Clinical evaluation was carried out according to the scale defined by the European HMSN Consortium....

Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements in human chromosomes. Previous studies on the 2and 1-globin genes have shown that de novo deletions common in -thalassemics can be directly accessed in human DNA and provide an informative system f...

A hybrid cloud is a combination of public and private clouds bound together by either standardized or proprietary technology that enables data and application portability. Proposed system aiming to efficiently solving the problem of deduplication with differential privileges in cloud computing. A hybrid cloud architecture consisting of a public cloud and a private cloud and the data owners only...