Results 21 to 30 of about 2,581,325 (340)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Chromosomal abnormalities and autism

Egyptian Journal of Medical Human Genetics, 2016
Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several ...
Farida El-Baz, Mohamed Saad Zaghloul, Ezzat El Sobky, Reham M Elhossiny, Heba Salah, Neveen Ezy Abdelaziz   +5 more
doaj   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

Journal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi, Hossein Alikhah, Sharareh Barband, Fereshteh Farhadi, Mohammad Naghavi-Behzad, Saeed Jodi-Khajeh, Sahar Mohammadi, Reza Piri   +7 more
doaj   +1 more source

Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]

, 2010
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban, A Kuliev, A Kuliev, A Mantzouratou, A Pujol, AL Barlow, C Gutierrez-Mateo, C Gutierrez-Mateo, C Staessen, C Tease, C Tease, C Tease, C Yuncken, CM Conn, CM Conn, D Wells, D Wells, E Bendsen, E Fragouli, E Fragouli, E Fragouli, E Fragouli, E Iwarsson, EY Cheng, F Pellestor, F Pellestor, G Sher, HE Hall, J Cohen, J Cozzi, JD Delhanty, JD Delhanty, JD Delhanty, JD Delhanty, KT Jones, L Gianaroli, L Gras, L Voullaire, L Voullaire, L Wilton, M Hultén, M Sandalinas, M Simopoulou, MA Hultén, ML Lenzi, NV Kovaleva, P Platteau, PA Almeida, PA Hunt, R Angell, R Mahmood, S Cupisti, S Evsikov, S Mastenbroek, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, T Anahory, T Hassold, TR Oliver, Y Verlinsky   +65 more
core   +1 more source

Diagnosis of fetal non‐chromosomal abnormalities on routine ultrasound examination at 11–13 weeks' gestation

Ultrasound in Obstetrics and Gynecology, 2019
To examine the performance of the routine 11–13‐week scan in detecting fetal non‐chromosomal abnormalities.
A. Syngelaki, A. Hammami, S. Bower, V. Zidere, R. Akolekar, K. Nicolaides   +5 more
semanticscholar   +1 more source

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   +1 more source

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

American Journal of Human Genetics, 2019
Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic tool to define the contribution of chromosomal abnormalities in human diseases ...
Z. Dong, Junhao Yan, Fengping Xu, Jianying Yuan, Hui Jiang, Huilin Wang, Haixiao Chen, Lei Zhang, Lingfei Ye, Jinjin Xu, Yuhua Shi, Zhenjun Yang, Ye Cao, Lingyun Chen, Qiaoling Li, Xia Zhao, Jiguang Li, Ao Chen, Wenwei Zhang, Hoi Gin Wong, Yingying Qin, Han Zhao, Yuan Chen, Pei Li, T. Ma, Wen-jing Wang, Y. K. Kwok, Yuan Jiang, A. Pursley, J. Chung, Yan Hong, K. Kristiansen, Huanming Yang, R. Piña-Aguilar, T. Leung, S. Cheung, C. Morton, K. Choy, Zi-jiang Chen   +38 more
semanticscholar   +1 more source

The association between IVF and chromosomal abnormalities compared to spontaneous conception

Journal of Biochemical and Clinical Genetics, 2021
In vitro fertilization (IVF) is a process by which an egg is extracted by needle aspiration and then combined with a sperm so that fertilization can occur outside the body. Genetic defects, such as chromosomal abnormalities, are considered rare among the
Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel   +5 more
doaj   +1 more source