3q29 microduplication syndrome: New evidence for the refinement of the critical region
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2130
Abstract: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two… read more here.
Keywords: syndrome new; microduplication syndrome; microduplication; critical region ... See more keywords
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.02.011
Abstract: Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication… read more here.
Keywords: microduplication syndrome; 3q29 microduplication; microduplication; syndrome description ... See more keywords
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000303
Abstract: Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, ‘Federico II’ University, Department of Neuroscience, Child Neuropsychiatry Unit, Santobono-Pausilipon Children’s Hospital, Department of Translational Medical Sciences, Child Neuropsychiatry Unit, University of Naples Federico II, Naples… read more here.
Keywords: department; department neuroscience; microduplication syndrome; syndrome contribution ... See more keywords
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Women's Health"
DOI: 10.2147/ijwh.s253885
Abstract: Abstract Trisomy 20p is a chromosomal anomaly resulting from whole or partial duplication of the short arm of chromosome 20. It is a rarely reported syndrome and it is estimated that there are only a… read more here.
Keywords: bilateral salpingectomy; patient microduplication; microduplication syndrome; hysterectomy bilateral ... See more keywords
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Internet Research"
DOI: 10.2196/21023
Abstract: Background 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not… read more here.
Keywords: study; microduplication; self phenotyping; 16p13 microduplication ... See more keywords