Results 11 to 20 of about 58,343 (309)

Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma

Journal of Hematology & Oncology, 2010
The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends.
Malone Adriana K, Gruenstein Stephen, Sivendran Shanthi, Najfeld Vesna   +3 more
doaj   +2 more sources

Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality [PDF]

Case Reports in Pediatrics, 2016
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal
Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna   +2 more
doaj   +2 more sources

Epilepsy and chromosomal abnormalities [PDF]

Italian Journal of Pediatrics, 2010
Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.Detailed clinical assessment, electrophysiological
Sorge Giovanni, Sorge Anna
openaire   +3 more sources

46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review

Reproductive and Developmental Medicine, 2019
A young boy with a facial abnormality was brought to our genetics clinic. Physical examination found bilateral cryptorchidism. Several clinical genetic tests, including chromosome microarray analysis (CMA), karyotyping, and azoospermia factor (AZF ...
Han-Zhi Wu, Chao Lou, Li Liu, Cui-Yun Qin, Hongmin Yan, Rong Qiang   +5 more
doaj   +1 more source

#365 : Characteristics of Embryo Mosaicism Detected Using Next-Generation Sequencing PGT-A

Fertility & Reproduction, 2023
Background and Aims: Chromosomal mosaicism may occur in minority of embryos. Their commonality and uncertainty made the embryo mosaic rates vary from center to center.
Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Raden Muharam, Budi Wiweko, Kanadi Sumapraja, Gita Pratama, Achmad Kemal Harzif, Mila Maidarti, Vita Silvana, Andon Hestiantoro   +10 more
doaj   +1 more source

Nuclear organisation of sperm remains remarkably unaffected in the presence of defective spermatogenesis [PDF]

, 2011
Organisation of chromosome territories in interphase nuclei has been studied in many systems and positional alterations have been associated with disease phenotypes (e.g. laminopathies, cancer) in somatic cells.
Ellis, Michael, Dimitris Ioannou, Meershoek, Eric J., Dimitra Christopikou, Eric J. Meershoek, Thornhill, Alan R., Michael Ellis, Darren Karl Griffin, Ioannou, Dimitris, Christopikou, Dimitra, Griffin, Darren K., Alan R. Thornhill   +11 more
core   +1 more source

Esthesioneuroblastoma in a boy with 47, XYY karyotype [PDF]

Korean Journal of Pediatrics, 2016
Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park   +3 more
doaj   +1 more source

The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5‐azacytidine: Results from the Hellenic 5‐azacytidine registry

Cancer Medicine, 2019
In patients with myelodysplastic syndrome (MDS), the prognostic significance of chromosome 17 abnormalities has not yet been fully elucidated, except for isochromosome 17q that has been characterized as an intermediate risk abnormality in the Revised ...
Panagiotis Diamantopoulos, Dafni Koumbi, Ioannis Kotsianidis, Vasiliki Pappa, Argiris Symeonidis, Athanasios Galanopoulos, Panagiotis Zikos, Helen A. Papadaki, Panayiotis Panayiotidis, Maria Dimou, Eleftheria Hatzimichael, George Vassilopoulos, Susan Delimpasis, Despoina Mparmparousi, Sotirios Papageorgiou, Eleni Variami, Marie‐Christine Kyrtsonis, Aekaterini Megalakaki, Maria Kotsopoulou, Panagiotis Repousis, Ioannis Adamopoulos, Flora Kontopidou, Dimitrios Christoulas, Alexandra Kourakli, Dimitrios Tsokanas, Menelaos Konstantinos Papoutselis, Georgios Kyriakakis, Nora‐Athina Viniou, the Hellenic MDS study group   +28 more
doaj   +1 more source

Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective

Animals, 2021
The chromosomes of the domestic pig (Sus scrofa domesticus) are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers.
Brendan Donaldson, Daniel A. F. Villagomez, W. Allan King   +2 more
doaj   +1 more source

Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]

, 1999
Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Watters, A.D., Going, J.J., Adie, L., Bartlett, J.M.S., Grigor, K.M.   +4 more
core   +1 more source