Results 21 to 30 of about 100,877 (263)
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
doaj +1 more source
Replisome Dynamics during Chromosome Duplication [PDF]
EcoSal Plus, 2009 This review describes the components of the Escherichia coli replisome and the dynamic process in which they function and interact under normal conditions. It also briefly describes the behavior of the replisome during situations in which normal replication fork movement is disturbed, such as when the replication ...
Isabel, Kurth, Mike, O'Donnell
openaire +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2011 Objective: To present molecular cytogenetic characterization of a prenatally detected duplication of 15q26.2→q26.3 in a fetus with overgrowth. Case Report: A 34-year-old para 0 woman underwent amniocentesis at 18 weeks of gestation because of advanced ...
Chih-Ping Chen +11 more
doaj +1 more source
BMC Ecology and Evolution, 2021 Background The great diversity in plant genome size and chromosome number is partly due to polyploidization (i.e. genome doubling events). The differences in genome size and chromosome number among diploid plant species can be a window into the ...
J. S. Eriksson +5 more
doaj +1 more source
The phenotypic manifestations of chromosome 17p11.2 duplication [PDF]
Brain, 1997 Clinical and electrophysiological investigations and nerve biopsies were carried out on 61 patients shown to have a chromosome 17p11.2 duplication (hereditary motor and sensory neuropathy-HMSN Ia). Of these, 50 showed a Charcot-Marie-Tooth (CMT) phenotype and eight could be classified as having the Roussy-Lévy syndrome.
P K, Thomas +9 more
openaire +2 more sources
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
Case Reports in Genetics, 2020 We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb).
Leia A. Peterman +4 more
doaj +1 more source
Phenotypic and Cytogenetic Variety of Pure Partial Trisomy [PDF]
Acta Medica Iranica, 2009 Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p.
Mehrdad Noruzinia +7 more
doaj +1 more source
Case Reports in Pediatrics, 2012 Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4.
Shalinder Singh +7 more
doaj +1 more source
Scientific Reports, 2017 Segmental duplication is a major structural variation that occurs in chromosomes. Duplication leads to the production of gene copies with increased numbers of related repeat segments, causing the global genome to be in a state of imbalance.
Rong Zhang +7 more
doaj +1 more source
47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3) with azoospermia and low intelligence
Reproductive and Developmental Medicine, 2019 A 27-year-old patient with azoospermia and low intelligence was reported having a rare karyotype 47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3).
Chao Lou +6 more
doaj +1 more source