Results 21 to 30 of about 231,455 (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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Consanguinity and chromosomal abnormality [PDF]
, 2005 BACKGROUND: Consanguinity is defined as the marriage between close relatives. The deleterious effects associated with consanguinity may be caused by the expression of rare recessive genes inherited from common ancestors.
S. Amudha, N. Aruna, S. Rajangam
core +2 more sources
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 +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 +7 more
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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 +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 +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 +5 more
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Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report
Rwanda Medical Journal, 2023 INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause.
N. Dukuze +7 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 +2 more
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