Results 31 to 40 of about 2,432,280 (329)

Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts1

open access: yesBiology of Reproduction, 2013
Preimplantation genetic diagnosis and screening are widely accepted for chromosomal abnormality identification to avoid transferring embryos with genetic defects.
Xuyang Yin   +25 more
semanticscholar   +1 more source

Clinical Significance of Application of Chromosomal Karyotyping of Villus Tissues

open access: yesInternational Journal of Women's Health, 2023
Shuyun Zhang,1,* Lijuan Wu,1,* Xue Li,1 Li Yang,1 Sujuan Shen,1 Hong Shen,1 Dan Zhao,2 Lin Qi2,3 1Center of Reproductive Medicine, The Second Affiliated Hospital of Soochow University, Su Zhou, People’s Republic of China; 2Precision Medicine ...
Zhang S   +7 more
doaj  

Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report

open access: yesInternational Journal of Hematology-Oncology and Stem Cell Research, 2018
The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. However, there has been no reports on the occurrence of pancytopenia as a consequence of 5q35.2-q35.3 duplication. A 42-year-
Sungwoo Park   +3 more
doaj   +1 more source

An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2012
Objective: Amniocentesis is a popular and effective prenatal diagnostic tool for chromosomal disorders. It is well-established that the risk of chromosomal abnormalities increases with maternal age; however, other related indications are seldom reported.
Yi-Wen Chang   +12 more
doaj   +1 more source

Chromosomal analysis of 262 miscarried conceptuses: a retrospective study

open access: yesBMC Pregnancy and Childbirth, 2022
Background Embryonic chromosomal abnormality is one of the significant causative factors of pregnancy loss. Our goal was to investigate the differences of chromosomal abnormality between different conception modes in miscarried products of conception ...
Juan Gui   +5 more
doaj   +1 more source

Chromosomal Abnormality, fetal/neonatal Death and Socioeconomic Status: A Prospective Cohort Study

open access: yes, 2023
Objectives To assess the risk gradient of chromosomal abnormalities and fetal or neonatal death across a socioeconomic spectrum of pregnant women.
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core   +1 more source

Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report

open access: yesRwanda Medical Journal, 2023
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause.
N. Dukuze   +7 more
doaj   +2 more sources

Chromosome abnormalities in erythroleukemia [PDF]

open access: yesCancer, 1987
Erythroleukemia (EL) is a heterogeneous disease in terms of cell type affected, chromosome abnormalities found in the malignant clone, and clinical course. In this article, cases of erythroid EL from the recent medical literature are reviewed using cytogenetic criteria to distinguish such cases from those of myeloid EL.
openaire   +2 more sources

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

open access: yesFrontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi   +2 more
doaj   +1 more source

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

open access: yesFrontiers in Cardiovascular Medicine, 2020
Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian ...
Liangping Cheng   +12 more
doaj   +1 more source

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