Zobrazeno 1 - 10
of 1 538
pro vyhledávání: '"Chromosomal microarray analysis"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 764-767 (2024)
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microdup
Externí odkaz:
https://doaj.org/article/95156a5683234569952a90841a73d156
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background The 15q11.2 BP1-BP2 microdeletion syndrome is associated with developmental delays, language impairments, neurobehavioral disorders, and psychiatric complications. The aim of the present study was to provide prenatal and postnatal
Externí odkaz:
https://doaj.org/article/02a7f68848f14fb6aa02b4dec588e2b8
Autor:
Shujuan Yan, Qiuxia Yu, Hang Zhou, Ruibin Huang, You Wang, Chunling Ma, Fei Guo, Fang Fu, Ru Li, Fucheng Li, Xiangyi Jin, Li Zhen, Min Pan, Dongzhi Li, Can Liao
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Backgroud A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth
Externí odkaz:
https://doaj.org/article/d77a68af9f074d7eac5fb93c7065bc2a
Autor:
Qing Lu, Laipeng Luo, Baitao Zeng, Haiyan Luo, Xianjin Wang, Lijuan Qiu, Yan Yang, Chuanxin Feng, Jihui Zhou, Yanling Hu, Tingting Huang, Pengpeng Ma, Ting Huang, Kang Xie, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/be0dc194fa524d1fae92b68b64eff4c6
Autor:
Cecilia Pynaker, Jacqui McCoy, Jane Halliday, Sharon Lewis, David J. Amor, Susan P. Walker, Lisa Hui, On behalf of the PALM cohort study group
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background There are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this study were (i) to dete
Externí odkaz:
https://doaj.org/article/f567dae251164b458efae9ad27693720
Publikováno v:
International Journal of General Medicine, Vol Volume 17, Pp 3531-3540 (2024)
Xiaoqin Chen,1,2 Liubing Lan,1,2 Heming Wu,1 Mei Zeng,1,2 Zhiyuan Zheng,1 Qiuping Zhong,2 Fengdan Lai,2 Yonghe Hu2 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republ
Externí odkaz:
https://doaj.org/article/2c861a6afef14defac02e27153d73f8f
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number
Externí odkaz:
https://doaj.org/article/f6655cca1ab0492cbb8308c495a98900
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with high-risk pregnancies is gradually increasing. In this study, 4211 fetuses who underwent chr
Externí odkaz:
https://doaj.org/article/fa73b7249d83470abb3e82e9ad7a9de0
Publikováno v:
Zhongguo linchuang yanjiu, Vol 37, Iss 6, Pp 830-834 (2024)
The genetic mechanism of congenital heart disease (CHD) is complex and currently lacks a clear understanding. Literature studies on CHD often report the presence of concurrent extracardiac anomalies, but since the majority of CHD cases are isolated,
Externí odkaz:
https://doaj.org/article/b98f733b135c4731acd86b12c3439198
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 85-93 (2024)
Zhen Xu,1– 3 Na Liu,1– 3 Lu Gao,1– 3 Dongyi Yu1– 3 1Center for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital, Affiliated to Qingdao University, Jinan, Shandong, 250000, People’s Republi
Externí odkaz:
https://doaj.org/article/d70dc243f3a54044aca443883e631d12