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
A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.10.010
Abstract: Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been… read more here.
Keywords: analysis; kdm5b gene; microduplication; chromosome microarray ... See more keywords
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-05029-3
Abstract: Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk… read more here.
Keywords: recurrent homozygous; microduplication; pineoblastoma; pediatric adult ... See more keywords
22q11.2 Microduplication: An Enigmatic Genetic Disorder.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1655754
Abstract: Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes… read more here.
Keywords: microduplication enigmatic; microduplication; 22q11 microduplication; micrognathia ... See more keywords
A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay
Sign Up to like & getrecommendations! Published in 2019 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2019.1571132
Abstract: Abstract Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication.Case report: A boy with an aggressive behavior, no speech and… read more here.
Keywords: hemizygous 370; xq13; autism; speech ... See more keywords
16p11.2 Microduplication and associated symptoms: A case study
Sign Up to like & getrecommendations! Published in 2018 at "Applied Neuropsychology: Child"
DOI: 10.1080/21622965.2017.1326046
Abstract: ABSTRACT The minimal amount known regarding chromosomal microduplications and microdeletions presents a fascinating new direction of research into better understanding misunderstood symptoms and overall genomic influence. Specifically, the 16p11.2 microduplication has been associated with a… read more here.
Keywords: 16p11 microduplication; microduplication; associated symptoms; microduplication associated ... See more keywords
Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14204
Abstract: Split hand/foot malformation (SHFM) is a clinically heterogeneous genetic disorder, which is mainly characterized by median clefts of the hand/feet due to the absence of the central digital rays. Several subgroups of SHFM have been… read more here.
Keywords: family; microduplication; malformation; hand ... See more keywords
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0431-7
Abstract: BackgroundCopy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidney and urethra, type 5… read more here.
Keywords: diagnosis 17q12; diagnosis; microdeletion; prenatal diagnosis ... See more keywords
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-022-00592-3
Abstract: Background Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing… read more here.
Keywords: microduplication; distal end; chromosome; case ... 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