Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.
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3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.
Eur J Med Genet
December 2020
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics.
View Article and Find Full Text PDF3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Eur J Med Genet
August 2018
Laboratory of Cytogenetics, Istituto Giannina Gaslini, Genoa, Italy.
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 syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome. The duplications described so far range from 2.3 Mb to 1.
View Article and Find Full Text PDFDistinct subtypes of genomic deletion size influence the landscape of aneuploidy and outcome in prostate cancer.
Mol Cytogenet
January 2018
Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Background: Inactivation of the tumor suppressor gene by deletion occurs in 20-30% of prostate cancer tumors and loss strongly correlates with a worse outcome. PTEN loss of function not only leads to activation of the PI3K/AKT pathway, but is also thought to affect genome stability and increase levels of tumor aneuploidy. We performed an in silico integrative genomic and transcriptomic analysis of 491 TCGA prostate cancer tumors.
View Article and Find Full Text PDFNovel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.
Am J Med Genet A
June 2017
Department of Medical Genetics and Pediatrics, McGill University Health Centre, Montréal, Quebec, Canada.
Article Synopsis
- The text discusses a child with a deletion on chromosome 3 (3q27.2-qter) that includes the RPL35A gene, which is linked to Diamond-Blackfan anemia (DBA) and an unexplained immunodeficiency disorder.
- The study reviewed existing literature to find 85 similar genomic deletions, noting that while all six deletions that included the RPL35A gene resulted in DBA, none had reported cases of immunodeficiency.
- Despite investigating the possibility of RIDDLE syndrome, linked to the RNF168 gene, the child's tests showed no deficiencies, leaving the cause of her immunodeficiency unknown.
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Am J Med Genet A
August 2014
Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.
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