Results 1 to 10 of about 218,782 (270)

Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China. [PDF]

Int J Womens Health
Qiang Ye,1 Guoping Huang,1 Qin Hu,1 Qin Man,2 Xiaoying Hao,3 Liangyan Liu,4 Qiang Zhong,1 Zhao Jin2 1Department of Clinical Laboratory, West China Second University Hospital, Southern Sichuan Women’s and Children’s Hospital, Zigong, Sichuan, 643000 ...
Ye Q, Huang G, Hu Q, Man Q, Hao X, Liu L, Zhong Q, Jin Z.   +7 more
europepmc   +2 more sources

Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report [PDF]

Iranian Journal of Medical Sciences, 2022
Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay.
Mozhgan Saberi, Frouzandeh Mahjoubi
doaj   +1 more source

Clinical characteristics and therapeutic evaluation of autosomal recessive juvenil ⁃ onset Parkinson's disease

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To report one case of autosomal recessive juvenile⁃onset Parkinson's diseased (AR⁃JP), and summarize its clinical manifestations, imaging and genetic testing results, treatment and outcome.
ZHANG Yue, ZHANG Cheng, LI Juan, WU Jing⁃jing, LIN Dong   +4 more
doaj   +1 more source

Perinatal Outcomes According to the Type of Prenatally Diagnosed Umbilical-Portal-Systemic Venous Shunt

Clinical and Experimental Obstetrics & Gynecology, 2022
Background: The abnormal course of the umbilical vein and the absence or displacement of the portal vein or ductus venosus may suggest the presence of other shunts.
Jinha Chung, Jihye Koh, Mi-Young Lee, Hye-Sung Won   +3 more
doaj   +1 more source

Chromosomal instability in patients with Fanconi anemia from Serbia [PDF]

Vojnosanitetski Pregled, 2014
Background/Aim. Fanconi anemia (FA) is a rare hereditary disease in a heterogeneous group of syndromes, so-called chromosome breakage disorders. Specific hypersensitivity of its cells to chemical agents, such as diepoxybutane (DEB), was used as ...
Ćirković Sanja, Guć-Šćekić Marija, Vujić Dragana, Mićić Dragan, Škorić Dejan   +4 more
doaj   +1 more source

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

Clinical Case Reports, 2022
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, Nelson A. Espinoza‐Moreno, Mauricio E. Zavala Galeano, Barbara R. DuPont, Héctor M. Ramos‐Zaldívar   +6 more
doaj   +1 more source

A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples

Life, 2021
Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis.
Xiya Zhou, Xiangbin Chen, Yulin Jiang, Qingwei Qi, Na Hao, Chengkun Liu, Mengnan Xu, David S. Cram, Juntao Liu   +8 more
doaj   +1 more source

Fluorescence in situ hybridization in hematology [PDF]

Vojnosanitetski Pregled, 2012
nema
Milošević Ivana, Popović Stevan, Urošević Ivana   +2 more
doaj   +1 more source

Complete trisomy 14 mosaicism: first live-born case in Korea [PDF]

Korean Journal of Pediatrics, 2012
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated ...
Yun Jung Hur, Taegyu Hwang
doaj   +1 more source

Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: The chromosomal anomalies are the most significant cause of human genetic disorders. Various types of structural and numerical chromosome aberrations have been identified in clinically suspect of genetic disorders.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Moreshwar R Shende, Manish Jain, Poonam Verma Shivkumar   +5 more
doaj   +1 more source