Results 1 to 10 of about 48,766 (300)

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]

Frontiers in Medicine
PurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang, Shaozhe Yang, Rongxiang Li, Rongxiang Li, Shuwen Xin, Shuwen Xin, Yanqi He, Yanqi He, Shaoxia Teng, Shaoxia Teng, Yanan Gao, Yanan Gao, Xiuhong Fu, Xiuhong Fu   +13 more
doaj   +2 more sources

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis [PDF]

BMC Pregnancy and Childbirth
Background Although extensively investigated, the genetic etiology of fetal growth restriction (FGR) has not been fully understood. Previous studies have shown the potential of karyotyping, chromosomal microarray analysis (CMA) and trio-based WES (trio ...
Yangping Chen, Meiying Cai, Meihuan Chen, Xiaohe Pan, Xuna Shen, Binbin Song, Xiaohe Cai, Lili Zhou, Hailong Huang   +8 more
doaj   +2 more sources

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities [PDF]

Frontiers in Genetics
Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and T13).
Jong Chul Kim, Hyunjin Kim, HeeYeon Jang, HeeYeon Jang, Minyeon Go, Minyeon Go, Ji Eun Park, Chang Soo Ryu, Mi Uk Chin, Eun Hye Kim, Young Jin Lee, Sung Han Shim, Dong Hyun Cha   +12 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

Digital karyotyping [PDF]

Proceedings of the National Academy of Sciences, 2002
Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci ...
Tian-Li, Wang, Christine, Maierhofer, Michael R, Speicher, Christoph, Lengauer, Bert, Vogelstein, Kenneth W, Kinzler, Victor E, Velculescu   +6 more
openaire   +2 more sources

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

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

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

Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia

Future Science OA, 2020
Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may
Muhammad Sanusi Yahaya, Mohd Shahrom Salisi, Nur Mahiza Md Isa, Goh Yong Meng, Abdwahid Haron   +4 more
doaj   +1 more source