Results 1 to 10 of about 2,203,647 (230)

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience [PDF]

Journal of Clinical and Diagnostic Research, 2016
Introduction: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality.
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor   +6 more
doaj   +2 more sources

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

Bulletin of the National Research Centre, 2021
Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times.
Tajudeen O. Yahaya, Esther O. Oladele, Daniel Anyebe, Chidiebere Obi, M. D. A. Bunza, Ridwan Sulaiman, Usman U. Liman   +6 more
doaj   +2 more sources

Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

Balkan Journal of Medical Genetics, 2015
The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital ...
Mierla Dana, Malageanu M., Tulin R., Albu D.   +3 more
doaj   +2 more sources

Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study

Leukemia, 2021
Chromosomal abnormalities are established prognostic markers in adult ALL. We assessed the prognostic impact of established chromosomal abnormalities and key copy number alterations (CNA) among 652 patients with B-cell precursor ALL treated on a modern ...
A. Moorman, E. Barretta, E. Butler, E. Ward, K. Twentyman, A. Kirkwood, A. Enshaei, C. Schwab, T. Creasey, D. Leongamornlert, E. Papaemmanuil, P. Patrick, L. Clifton-Hadley, B. Patel, T. Menne, A. McMillan, C. Harrison, C. Rowntree, D. Marks, A. Fielding   +19 more
semanticscholar   +1 more source

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays

Frontiers in Genetics, 2022
Sex chromosomal abnormalities are associated with multiple defects. However, the types of sex chromosomal abnormalities during pregnancy in Fujian Province, China, are not recorded.
Haiwei Wang, Bin Liang, Yan Wang, Hailong Huang, Na Lin, Liangpu Xu   +5 more
doaj   +1 more source

Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods?

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2021
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane, Mary E. D’Alton, Fergal D. Malone   +2 more
doaj   +1 more source

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen, Yong-Feng Lai, Xiao-Hong Zhong, Jian-Hong You, Jiang-Hua Chen, Jing-Xian Xie, Xiao-Kang Chen, Xiao-Yan Chen, Guo-Rong Lyu   +8 more
doaj   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Genes, 2020
There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART).
M. Viotti
semanticscholar   +1 more source

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
doaj   +1 more source