Molecular Cytogenetics, 2019 Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai +6 more
doaj +1 more source
Molecular analysis of a large novel deletion causing α+-thalassemia
BMC Medical Genetics, 2019 Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang +10 more
doaj +1 more source
P622: NIPS dilemma in the context of consanguinity: Considerations for counseling
Genetics in Medicine Open, 2023 Noura Osman +3 more
doaj +1 more source
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
Molecular CytogeneticsBackground Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu +6 more
doaj +1 more source
Optical genome mapping of a complex structural rearrangement family line on chromosome 18
HereditasBackground Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai +3 more
doaj +1 more source
Prenatal Diagnosis of Iniencephaly
Taiwanese Journal of Obstetrics and Gynecology, 2007 Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked ...
openaire +3 more sources
Prenatal-Diagnosis of Hb H Disease Due to Compound Heterozygosity for South-East Asian Deletion and Hb Constant Spring by Polymerase Chain- Reaction [PDF]
, 2008 A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South- east Asian deletion and Constant Spring mutation.
柯滄銘;曾麗慧;謝豐舟;李鎡堯 +1 more
core
First-trimester diagnosis of hydrolethalus syndrome in a Chinese family [PDF]
, 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
The Application of Clinical GeneticsGuobing 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 +6 more
doaj
Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia [PDF]
Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia
Shear, Matthew A. +6 more
core +1 more source