Results 11 to 20 of about 409,247 (302)

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

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

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

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

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

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

Women’s experiences of coping with pregnancy\ud termination for fetal abnormality [PDF]

, 2013
Pregnancy termination for fetal abnormality (TFA) can have significant psychological consequences. Most research focus on measuring the psychological outcome of TFA,\ud and little is known about the coping strategies involved.
Lafarge, Caroline, Mitchell, Kathryn, Fox, Pauline   +2 more
core   +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

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

#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

Investigating the role of nuclear myosin I in the low serum induced repositioning of chromosome 10 in interphase nuclei [PDF]

, 2010
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.The nucleus of mammalian cells has been proven to be highly organised.
Amira, Manelle
core   +7 more sources