Zobrazeno 1 - 10
of 186
pro vyhledávání: '"copy number variation sequencing"'
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to
Externí odkaz:
https://doaj.org/article/0bedbde337d7439abecacc145a8e2ba5
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 2, Pp 238-241 (2024)
Objective: Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented
Externí odkaz:
https://doaj.org/article/6613a1fa111846f5a51c70661aa6eedb
Autor:
Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent respiratory infec
Externí odkaz:
https://doaj.org/article/b9bfe063974243c0b55e3259cae69b3a
Autor:
Jia Huang, Dong Wu, Jia-Huan He, Jing-Yuan Wang, Xi Li, Zheng-Yuan Wang, Yue Wang, Hong-Yan Liu
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectivesRegarding increased nuchal translucency (NT), the cutoff values used are heterogeneous in clinical practice, this study aims to assess the efficacy of prenatal detection for chromosomal abnormalities and pregnancy outcomes in fetuses with v
Externí odkaz:
https://doaj.org/article/4be3772da8414e71a189c0a2e2731df6
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion. This study investigates the potential correlation between chr
Externí odkaz:
https://doaj.org/article/55578d91c20f4fe494fcec8920cafd12
Publikováno v:
Heliyon, Vol 9, Iss 8, Pp e18868- (2023)
Background: Copy number variation sequencing (CNV-seq) was proven to be a highly effective tool in studying of chromosomal copy number variations (CNVs) in prenatal diagnosis and post-natal cases with developmental abnormalities. However, the overall
Externí odkaz:
https://doaj.org/article/6c6c00f13af34f30ac2e8086b754e15d
Akademický článek
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Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to
Externí odkaz:
https://doaj.org/article/e87400fb6fb44cf5b24826f3483b822c
Autor:
Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results sugg
Externí odkaz:
https://doaj.org/article/80d17c4fc23245f89809b24653316e05
Autor:
Yazhou Huang, Linya Ma, Zhaoxia Zhang, Shujuan Nie, Yuan Zhou, Jibo Zhang, Chao Wang, Xingxin Fang, Yingting Quan, Ting He, Anhui Liu, Dan Peng
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract Background Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift
Externí odkaz:
https://doaj.org/article/11788a9a2993478fa010afeef88da7fe