A de novo chromosome 9p duplication in a female child with short stature and developmental delay
SAGE Open Medical Case Reports, 2023 Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature.
Tinatin Tkemaladze +4 more
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Comparison of protocols for chromosome duplication in haploid maize. [PDF]
, 2023 Different methods of chromosome duplication are used to obtain doubled haploids in maize; however, comparisons of efficiency among protocols have only begun to appear in the literature.
TRINDADE, R. dos S. +4 more
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Neuropsychiatric Disease and Treatment, 2017 Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo ...
Nacinovich R +9 more
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, 2023 Scripts to support the publication: Aneuploidies are an ancestral feature of trypanosomatids, and an ancient chromosome duplication is maintained in extant ...
Reis-Cunha JL +9 more
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Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays [PDF]
, 2012 Genomic microarray analysis is rapidly replacing conventional chromosome analysis by molecular karyotyping due to the significant increase in the power to detect causative CNVs.
Rivera Brugués, Núria
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Localization of an accessory helicase at the replisome is critical in sustaining efficient genome duplication [PDF]
, 2010 © The Author(s) 2010. Published by Oxford University PressGenome duplication requires accessory helicases to displace proteins ahead of advancing replication forks.
Lloyd, RG +11 more
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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families [PDF]
, 2010 Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor +41 more
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A case of de novo duplication of 15q24-q26.3 [PDF]
Korean Journal of Pediatrics, 2011 Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations.
Eun Young Kim +6 more
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On the regulation of centriole duplication in human cells : exploring the interactions of polo-like kinase 4 with the centrosomal proteins Cep192 and STIL [PDF]
, 2015 Centrioles duplicate once in each cell cycle to give rise to two centrosomes that form the spindle poles during mitosis. Aberrant centriole duplication can result in the formation of supernumerary centrosomes, leading to incorrect spindle assembly and ...
Gabryjonczyk, Anna-Maria
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Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series
Children, 2020 Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of
Annio Posar, Paola Visconti
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