Results 1 to 10 of about 62,760 (341)

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities [PDF]

Frontiers in Genetics
ObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang   +3 more
doaj   +2 more sources

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing [PDF]

Frontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek, Jakub Staniczek, Jakub Staniczek, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Krzysztof Sodowski, Agata Włoch, Agata Włoch, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Rafał Stojko, Agnieszka Drosdzol-Cop, Agnieszka Drosdzol-Cop   +24 more
doaj   +2 more sources

A Novel Automated Chromosome Analyzer Software Bundle for Karyotyping and Birth Defect Analysis

IEEE Access, 2023
Karyotyping is a procedure to diagnose birth defects using chromosome pair. During the Karyotyping chromosomes arranged based on the length and each chromosome will be paired based on various parameters such as, chromosome length, banding pattern and ...
Devaraj Somasundaram, Aditya Chapparadahallimath, Muralitharan Krishanan, Nirmala Madian   +3 more
doaj   +1 more source

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

Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype [PDF]

Vojnosanitetski Pregled, 2023
Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon.
Denčić-Fekete Marija, Terzić Tatjana, Jaković Ljubomir, Đurašinović Vladislava, Đurašević-Karan Teodora, Radojković Milica, Pavlović Sonja, Bogdanović Andrija   +7 more
doaj   +1 more source

Umbilical Cyst with Edward Syndrome [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
The advances in Obstetric ultrasonography have allowed early and accurate detection of anomalies in utero. Umbilical cord anomalies may include cysts, vascular anomalies and masses.
Bhavesh Dinesh Rathod, Preethi Tamilarasan   +1 more
doaj   +1 more source

Combining Multicolor FISH with Fluorescence Lifetime Imaging for Chromosomal Identification and Chromosomal Sub Structure Investigation

Frontiers in Molecular Biosciences, 2021
Understanding the structure of chromatin in chromosomes during normal and diseased state of cells is still one of the key challenges in structural biology.
Archana Bhartiya, Archana Bhartiya, Ian Robinson, Ian Robinson, Mohammed Yusuf, Mohammed Yusuf, Mohammed Yusuf, Stanley W. Botchway   +7 more
doaj   +1 more source

Identification of heterochromatic variations in nonsyndromic cleft lip and palate

Journal of Orofacial Sciences, 2023
Introduction: Orofacial cleft (OFC) has been one of the major common congenital anomalies exhibiting prominent ramifications allied with the medical, social, psychological, and economic strands.
Soumya Raj, Leyon Varghese, Puthucode Viswanathan Narayanan, Suresh Kumar Raveendran, Pulikkottil Raphael Varghese, Alex George   +5 more
doaj   +1 more source

Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review

Репродуктивная эндокринология, 2020
Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine.
О. А. Бурка, Л. П. Кузьмук, Г.О. Ісламова, С. В. Овчаренко   +3 more
doaj   +1 more source

Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]

New Indian Journal of OBGYN, 2019
Objectives: The objective of the study is to determine the incidence, clinical and ultrasound characteristics of choroid plexus cyst diagnosed during the 18 -23 weeks anomaly scan and the genetic outcome in 6 pregnancies that underwent molecular ...
Olufemi Adebari Oloyede
doaj   +1 more source