Results 21 to 30 of about 157,842 (260)

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, Zhiyang Guan, Dina Chen, Guoxing Zhong, Hailin He, Kunxiang Yang, Jianhong Chen   +6 more
doaj   +1 more source

Pregnancy with Concomitant Chorioangioma and Placental Mesenchymal Dysplasia: A Rare Placental Abnormality

Case Reports in Obstetrics and Gynecology, 2013
Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition. Case.
Wu Qichang, Wang Wenbo, Zheng Liangkai, Kong Hui, He Xiaoqin, Sun Li, Xu Yasong   +6 more
doaj   +1 more source

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BMC Pregnancy and Childbirth, 2023
Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis ...
Sha Lu, Nisile Kakongoma, Wen-sheng Hu, Yan-zhen Zhang, Nan-nan Yang, Wen Zhang, Ai-fen Mao, Yi Liang, Zhi-fen Zhang   +8 more
doaj   +1 more source

Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

Annals of Medicine, 2023
Background: Copy number variants of uncertain significance (VUS) has brought much distress for patients and great counselling challenges for clinicians.
Ran Zhou, Jiao Jiao, Yan Wang, Lulu Meng, Yiming Li, Yiyun Xu, Ping Hu, Zhengfeng Xu   +7 more
doaj   +1 more source

Prenatal hospitalization and compliance with guidelines for prenatal care. [PDF]

American Journal of Public Health, 1996
OBJECTIVES: This study examined the relationship between compliance with the US Public Health Service guidelines for prenatal care and the rate of prenatal hospitalization. METHODS: For all women admitted to a Boston referral center during January and February 1993 with a pregnancy of at least 18 weeks gestation (n = 1400), a proportional hazards ...
J S, Haas, S, Berman, A B, Goldberg, L W, Lee, E F, Cook   +4 more
openaire   +2 more sources

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

Molecular Genetics & Genomic Medicine, 2023
Background We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac ...
Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou, An Liu, Lulu Meng, Xiuqing Ji, Ping Hu, Zhengfeng Xu   +8 more
doaj   +1 more source

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

Frontiers in Genetics, 2022
Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin.
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen   +9 more
doaj   +1 more source

Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China

American Journal of Perinatology Reports, 2017
Objective This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and ...
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo   +9 more
doaj   +1 more source

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

BMC Medical Genetics, 2019
Background Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy complicated with gastrocnemius ...
Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu, Zhengfeng Xu   +8 more
doaj   +1 more source

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

Frontiers in Genetics
ObjectiveThis study investigates the intergenerational transmission of benign mosaic supernumerary marker chromosomes or structural variant chromosomes (SMCs/SVs) and explores the developmental mechanisms that maintain non-pathogenic mosaic levels across
Jiayu Ruan, Qinhao Song, Yue Hu, Xiaodan Liu, Suping Li, Jianjun Zhu, Li Yang, Li Yang   +7 more
doaj   +1 more source