Results 61 to 70 of about 2,588,889 (202)

Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing

The Application of Clinical Genetics
Tingting Liu, Mingtao Huang, Min Dai, Yixuan Liang, Cuiping Zhang, Jianxin Tan, Fengchang Qiao, Yan WangDepartment of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Women and Children’s Healthcare Hospital, Nanjing, Jiangsu ...
Liu T, Huang M, Dai M, Liang Y, Zhang C, Tan J, Qiao F, Wang Y   +7 more
doaj  

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Impact of prenatal diagnosis of complex congenital heart disease on neonatal and infant morbidity and mortality

, 2018
Objectives The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30‐day and 1‐year mortality in this population.
Chakraborty, Abhishek, Swaminathan, Sethuraman, Gorla, Sudheer R   +2 more
core   +1 more source

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

The Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H   +6 more
doaj  

Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

, 2005
We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic ...
Yıldırım, Gökhan, Karaman, Birsen, Ceylan, Yavuz, Aslan, Halil   +3 more
core   +1 more source

A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR

Molecular Cytogenetics
Objective To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR).
Fang Zhang, ShanShan Ma, Yongan Wang, Shuai Men, Rong Zhang, Ting Yin   +5 more
doaj   +1 more source

Prenatal Diagnosis of Disease

Journal of the Royal College of Physicians of London, 1980
We are still in the early days as far as antenatal diagnosis of fetal disease and abnormality are concerned. All of the techniques show a high degree of accuracy if used in the correct circumstances but, apart from the use of maternal blood to assess the Rhesus status and screen for neural tube defects and amniocentesis to search for age-dependent ...
openaire   +2 more sources

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

Molecular Cytogenetics, 2019
Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion: Pre- and postnatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao   +3 more
doaj   +1 more source

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

, 2004
We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation.
Shek, TWH, Chan, BCP, Lee, CP
core   +1 more source