Results 31 to 40 of about 124,374 (336)

Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis [PDF]

PeerJ, 2023
Background Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive ...
Huan Guo, Rui Sheng, Xiu Zhang, Xuemei Jin, Wenjing Gu, Ting Liu, Haixin Dong, Ran Jia   +7 more
doaj   +2 more sources

Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: systematic review and meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2019
To assess the added value of chromosomal microarray analysis (CMA) over conventional karyotyping to assess the genetic causes in stillbirth.
R. Martínez-Portilla, M. Pauta, A. Hawkins-Villarreal, M. Rial-Crestelo, F. P. Y. Miño, Irene Madrigal, F. Figueras, F. Figueras, Antoni Borrell   +8 more
semanticscholar   +1 more source

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

Frontiers in Genetics, 2022
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination.
Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong, Minyue Dong, Minyue Dong   +7 more
doaj   +1 more source

Circulating tumor cells with karyotyping as a novel biomarker for diagnosis and treatment of nasopharyngeal carcinoma

BMC Cancer, 2018
Circulating tumor cells (CTCs) have been considered great clinical significance in various cancers. However, it remains unknown that how is the role of CTCs in patients with nasopharyngeal carcinoma (NPC).
Jing Zhang, Huashan Shi, T. Jiang, Zhe Liu, P. Lin, N. Chen   +5 more
semanticscholar   +1 more source

Pneumocystis carinii karyotypes [PDF]

Journal of Clinical Microbiology, 1990
Pulsed-field gel electrophoresis techniques were used to examine the chromosomes of Pneumocystis carinii isolated from laboratory rats and two human subjects. P. carinii organisms isolated from each of four rat colonies and from two patients each produced a distinct band pattern, but in all cases the bands ranged in size from 300 to 700 kilobase pairs.
S T, Hong, P E, Steele, M T, Cushion, P D, Walzer, S L, Stringer, J R, Stringer   +5 more
openaire   +2 more sources

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Frontiers in Genetics
ObjectiveTo assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results.MethodsWe conducted electronic searches in four databases, focusing
Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu   +6 more
doaj   +1 more source

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

Efficacy and Mechanism Evaluation, 2017
Background: Current pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion.
Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher, John A Crolla   +9 more
doaj   +1 more source

MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2017
Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is ...
RAMBIR SINGH, SUNIL D KUMAR, NIDHI AGGARWAL   +2 more
doaj   +1 more source

Chromosomal abnormalities in primary and secondary amenorrhea

Bangabandhu Sheikh Mujib Medical University Journal
Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed
Tasnim Binte Ahmed, Jasmine Akhter Jahan, Bishnu Pada Dey, Saequa Habib   +3 more
doaj   +1 more source

A Cross-sectional Study on Molecular Cartography: The Mapping of Down Syndrome with Cytogenetic Tools [PDF]

National Journal of Laboratory Medicine
Introduction: Down Syndrome (DS), or trisomy 21, is the most common genetic cause of intellectual disability among children, with an incidence of 1 in 700 births.
A Deepa, K Chandramouleeswari, M Dougul Regis   +2 more
doaj   +1 more source