Results 71 to 80 of about 91,924 (199)

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B, Mehan, Michael R, Ophoff, Roel A   +2 more
core   +2 more sources

Vietnam, a Hotspot for Chromosomal Diversity and Cryptic Species in Black Flies (Diptera: Simuliidae).

PLoS ONE, 2016
The increasing attention on Vietnam as a biodiversity hotspot prompted an investigation of the potential for cryptic diversity in black flies, a group well known elsewhere for its high frequency of isomorphic species. We analyzed the banding structure of
Peter H Adler, Hiroyuki Takaoka, Mohd Sofian-Azirun, Van Lun Low, Zubaidah Ya'cob, Chee Dhang Chen, Koon Weng Lau, Xuan Da Pham   +7 more
doaj   +1 more source

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

Frontiers in Genetics, 2023
Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1),
Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li   +6 more
doaj   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Epilepsy, EEG and chromosomal rearrangements

Epilepsia Open
Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Justyna Paprocka, Antonietta Coppola, Claudia Cuccurullo, Elżbieta Stawicka, Pasquale Striano   +4 more
doaj   +1 more source

A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report

Molecular Cytogenetics, 2022
Background A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-refractory aggressive form of ...
Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Subit Barua, Sam Dougaparsad, Jeffrey A. Vos, Peter L. Perrotta   +6 more
doaj   +1 more source

High-Definition Cytogenetic Mapping of modern sugarcane cultivars by Oligo-FISH

Industrial Crops and Products
Sugarcane (Saccharum spp.), a dual-purpose crop valued for sugar and energy production, serves as an important industrial raw material and has substantial economic impact.
Qilong Ling, Junpeng Yang, Yu Tang, Xiaoying Huang, Wei Yao, Zuhu Deng, Muqing Zhang, Fan Yu   +7 more
doaj   +1 more source

Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. [PDF]

Journal of Medical Genetics, 1993
A Caucasian boy with a de novo complex chromosome rearrangement owing to six chromosome breaks was small for gestation with microcephaly, complex heart defect, hypotonia, left auricular pit, simian creases, and ankyloblepharon filiforme adnatum. The rearrangement included two translocation, t(15;21) (q22;q22) and t(3;11)(q21;q11), with the derivative 3
B G, Kousseff, P, Papenhausen, Y P, Essig, M P, Torres   +3 more
openaire   +2 more sources

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]

, 2015
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C, Owoka, T, Saccone, S, Tosi, S, Vetter, M   +4 more
core   +2 more sources

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +1 more source