Results 21 to 30 of about 6,628 (168)

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

Haematologica, 2008
Background We undertook a genome wide single nucleotide polymorphism analysis of a spectrum of patients with myelodysplastic syndrome del(5q) in order to investigate whether additional genomic abnormalities occur.
Li Wang, Carrie Fidler, Nandita Nadig, Aristoteles Giagounidis, Matteo G. Della Porta, Luca Malcovati, Sally Killick, Norbert Gattermann, Carlo Aul, Jacqueline Boultwood, James S. Wainscoat   +10 more
doaj   +1 more source

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Frontiers in Immunology, 2021
Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene.
Mireia Boluda-Navarro, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Esperanza Such, Ángel Zúñiga, Roger Colobran, Roger Colobran, Roger Colobran, José Vicente Cervera, José Vicente Cervera   +21 more
doaj   +1 more source

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Clinical Epigenetics, 2017
Background Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible ...
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth, Reiner Siebert   +8 more
doaj   +1 more source

Maternal Uniparental Disomy for Chromosome 14 [PDF]

Acta geneticae medicae et gemellologiae: twin research, 1996
AbstractA girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the ...
D A, Coviello, E, Panucci, M M, Mantero, C, Perfumo, M, Guelfi, C, Borrone, F, Dagna Bricarelli   +6 more
openaire   +2 more sources

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Clinics, 2012
OBJECTIVE: Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Monica Castro Varela, Celia P. Koiffmann, Chong Ae Kim   +7 more
doaj   +1 more source

Clinical significance and mechanisms associated with segmental UPD

Molecular Cytogenetics, 2021
Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear.
Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz, Andrea Penton   +5 more
doaj   +1 more source

Angelman Syndrome: Chromosome Abnormality

Pediatric Neurology Briefs, 1992
Clinical cytogenetic and molecular evidence in 1 patient with paternal uniparental disomy (UPD) for chromosome 15 is reported from the University of Florida College of Medicine, Gainesville, FL.
J Gordon Millichap
doaj   +1 more source

Uniparental Disomy and Imprinting Disorders [PDF]

OBM Genetics, 2018
Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD.
Eggermann, Thomas, J.g. Mackay, Deborah, Tümer, Zeynep   +2 more
openaire   +2 more sources

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

Molecular Cytogenetics, 2019
Background Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region.
Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao, Aihua Yin   +14 more
doaj   +1 more source

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Molecular Cytogenetics, 2018
Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. Case presentation We report a 10-month-old boy with short stature, minor anomalies and mild motor delay.
Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan   +8 more
doaj   +1 more source