... trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion. Case Presentation: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Facial dysmorphism Genetic syndrome Language impairment Mowat-Wilson syndrome ZEB2...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Acyl CoA oxidase Cerebellar ataxia Cerebellar white matter D-bifunctional protein Facial dysmorphism India Peroxisomal disorders Regression...

.... Of these 24 patients, 20 also have epilepsy. Until now, epilepsy has been controlled in only 2 of these female patients. We report a female patient with a heterozygous de novo mutation, NM_001008537.2:c.1123del (p.Glu375Argfs*21), in NEXMIF . The patient showed mild intellectual disability, facial dysmorphism...

... described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well...

...E. Atack; H. Fairtlough; K. Smith; M. Balasubramanian 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...