Results 21 to 30 of about 246,397 (290)

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
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A Rare Chromosome Abnormality with der(16)t(1;16)(q12;q11.2) in Blast Crisis of Chronic Myeloid Leukemia

Case Reports in Oncology, 2020
Although tyrosine kinase inhibitors markedly improve the clinical outcome of chronic myeloid leukemia (CML), blast crisis in CML (CML-BC) still has a poor prognosis.
Ryo Yanagiya, Daisuke Ishikawa, Tomomi Toubai, Tsubasa Ichikawa, Naofumi Kawaguchi, Kunie Sugasawa, Kenichi Ishizawa, Soichi Saito   +7 more
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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
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Clinical Significance of Application of Chromosomal Karyotyping of Villus Tissues

International Journal of Women's Health, 2023
Shuyun Zhang,1,* Lijuan Wu,1,* Xue Li,1 Li Yang,1 Sujuan Shen,1 Hong Shen,1 Dan Zhao,2 Lin Qi2,3 1Center of Reproductive Medicine, The Second Affiliated Hospital of Soochow University, Su Zhou, People’s Republic of China; 2Precision Medicine ...
Zhang S, Wu L, Li X, Yang L, Shen S, Shen H, Zhao D, Qi L   +7 more
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Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report

International Journal of Hematology-Oncology and Stem Cell Research, 2018
The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. However, there has been no reports on the occurrence of pancytopenia as a consequence of 5q35.2-q35.3 duplication. A 42-year-
Sungwoo Park, Gyeong-Won Lee, Eun-Ha Koh, Hyun-Young Kim   +3 more
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An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: Amniocentesis is a popular and effective prenatal diagnostic tool for chromosomal disorders. It is well-established that the risk of chromosomal abnormalities increases with maternal age; however, other related indications are seldom reported.
Yi-Wen Chang, Chia-Ming Chang, Pi-Lin Sung, Ming-Jie Yang, Wai Hou Li, Hsin-Yang Li, Ling-Chao Chen, Ling-Yi Cheng, Yu-Ling Lai, Yung-Yung Cheng, Wen-Hsun Chang, Kuan-Chong Chao, Peng-Hui Wang   +12 more
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Chromosomal analysis of 262 miscarried conceptuses: a retrospective study

BMC Pregnancy and Childbirth, 2022
Background Embryonic chromosomal abnormality is one of the significant causative factors of pregnancy loss. Our goal was to investigate the differences of chromosomal abnormality between different conception modes in miscarried products of conception ...
Juan Gui, Jinli Ding, Tailang Yin, Qian Liu, Qingzhen Xie, Lei Ming   +5 more
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A CASE WITH A RARE CHROMOSOMAL ABNORMALITY: ISOCHROMOSOME 18p

, 2010
A case with a rare chromosomal abnormality: isochromosome 18p: Isochromosome 18p(i(18p)), is a rare chromosomal disorder that occurs once in about every 140.000 live births and affects males and females equally.
SAATÇİ, Çetin, Caglayan, A. O., DÜNDAR, Munis, Uzak, A. S., Cetin, Z., ARSLAN, Korhan   +5 more
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Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
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Chromosome abnormalities in erythroleukemia [PDF]

Cancer, 1987
Erythroleukemia (EL) is a heterogeneous disease in terms of cell type affected, chromosome abnormalities found in the malignant clone, and clinical course. In this article, cases of erythroid EL from the recent medical literature are reviewed using cytogenetic criteria to distinguish such cases from those of myeloid EL.
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