Results 11 to 20 of about 156,253 (302)
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu +6 more
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Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
Molecular Cytogenetics, 2022 Background A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation ...
Shengfang Qin +7 more
doaj +1 more source
Frontiers in Genetics, 2022 Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan +7 more
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Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
Molecular Cytogenetics, 2023 Background Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis.
Yang Yang, Wang Hao
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Clinical Psychology Review, 1998 This paper describes the psychological and psychosocial aspects of prenatal care, which are believed to be of particular importance for medical/psychological practice. The emotional changes that "normally" take place during pregnancy are surveyed and evidence is provided linking these changes with potential adverse effect on pregnancy and labour.
Dragonas, T., Christodoulou, G.N.
openaire +3 more sources
A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: We present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene. Case report: A pregnant woman came for medical attention due to the fetal ultrasound anomaly.
Yang Yang, Wang Yan, Mao Aifen, Wang Hao
doaj +1 more source
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: Hemoglobin Quong Sze (Hb QS) is one of the most common non-deletional α-thalassemia (α-thal), which is prevalent in the Southern Chinese population.
Zeyan Zhong +6 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: The aim of this work was to characterize the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome with codependent 10q24.2-q26.3 duplication in prenatal screening. Materials and methods: A 31-year-old
Jian-Ping He +7 more
doaj +1 more source
Identification of a familial complex chromosomal rearrangement by optical genome mapping
Molecular Cytogenetics, 2022 Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
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Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics
Frontiers in Cardiovascular Medicine, 2021 Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected.
Yahong Li +15 more
doaj +1 more source