Analysis of the 4q35 chromatin organization reveals distinct
2019年7月17日 · Here, we explored the 3D organization of the 4q35 locus by three-dimensions DNA in situ fluorescent hybridization (3D-FISH) in primary fibroblasts isolated from patients …
常染色体缺失遗传咨询（四）4号染色体上的缺失_胎儿先天畸形_胎 …
4q34.1是尺骨缺损的关键区域。在7个患者远端缺失的位置都是在 4q32.2q35.2 到 4q35.2q35.2 之间，大小为 464kb-24.0Mb。也有来自父母平衡易位者。 缺失的片段长度与表型严重程度不一 …
4Q35: Structure of a membrane protein - RCSB PDB
2014年4月11日 · Here we report the crystal structure of the ∼110-kilodalton membrane protein complex LptD-LptE from Shigella flexneri at 2.4 Å resolution. The structure reveals an …
Specific sequence variations within the 4q35 region are ... - PubMed
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by progressive wasting and weakness of the facial, shoulder, and upper-arm muscles. FSHD is …
染色体 4q35.1q35.2 4.5-Mb 缺失的产前诊断：病例 ... - X-MOL
使用常规 G 显带技术对一名怀孕 24 周妇女的羊水细胞和父母及其大儿子的外周血淋巴细胞进行核型分析。 对父母和胎儿进行染色体微阵列分析 (CMA) 测试以分析全基因组中的拷贝数变异 …
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by ...
2013年10月31日 · Karyotype analysis led to the diagnosis of a 4qter deletion and array-CGH analysis confirmed with high precision a 8.0 Mb terminal 4q deletion, in the area 4q35.1-qter. …
A familial interstitial 4q35 deletion with no discernible clinical ...
Array-CGH analysis showed an interstitial deletion encompassing 5.75 Mb in the 4q35.1-q35.2 genomic region (chr4:184,717,878-190,469,337; hg19). This is the first report on a …
Human genome dispersal and evolution of 4q35 duplications and ...
2002年8月21日 · We have investigated the evolutionary history of the 4q35 paralogous region, and of a sub-family of interspersed LSau repeats. In HSA, 4q35 duplications were localized at …
Prenatal Diagnosis of Fetuses with 4q35 Deletion: Case Series and ...
Introduction: 4q35 deletion is a rare chromosomal syndrome with a wide range of phenotypes, which can be challenging to detect through prenatal ultrasound. This study aimed to …
Molecular cytogenetic characterization of isolated recurrent 4q35…
2024年9月18日 · A series of 14 cases with isolated recurrent 4q35.2 microduplications were investigated, highlighting a potential association with increased susceptibility to renal …