A5054729324- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Blood disorders and treatments
- Aquaculture disease management and microbiota
- Congenital heart defects research
- Genomics and Rare Diseases
- RNA regulation and disease
- Hedgehog Signaling Pathway Studies
- Renal and related cancers
- Acute Myeloid Leukemia Research
- Long-Term Effects of COVID-19
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Invertebrate Immune Response Mechanisms
- Cerebrovascular and genetic disorders
- Infectious Encephalopathies and Encephalitis
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Physiological and biochemical adaptations
- Mitochondrial Function and Pathology
- Viral Infections and Immunology Research
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Craniofacial Disorders and Treatments
Chengdu Women's and Children's Central Hospital
2024
Chengdu Medical College
2024
Maternal and Child Health Hospital of Sichuan Province
2016-2024
Guangxi Academy of Fishery Sciences
2019-2020
Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, HPA identified only through newborn screening for diseases. It important to distinguish BH4 from phenylketonuria (PKU, MIM # 261600). Timely diagnosis treatment are crucial prognosis patients.
List of key features High nasal bridge Short stature Micrognathia Seizure Introduction The loss function PCNT is the cause microcephalic osteosplastic primary dwarfism type II (MOPD II, MIM 605925) (Ain et al., 2021). Since first report in 2008 (Rauch 2008), over 150 cases MOPD have been documented, including ten observations China, suggesting that this an extremely rare condition. disorder characterized by distinct such as a high palate, prominent bridge, and bird-like facial profile (Hall...
To assess the value of fluorescent in situ hybridization (FISH) for detecting common chromosome aneuploidies interphase nuclei amniotic fluid cells.Eighty two uncultured samples and supernatants from 2 successfully 5 unsuccessfully cultured were analyzed with FISH. Results standard cytogenetic analysis 79 compared FISH results.All 89 succeeded Positive findings included 3 cases trisomy 21, 1 case 47, XYY 69, XXX, which consistent results karyotype analysis.FISH is a rapid accurate method...
Cao, Min; Dan, Tang; Nie, Xiaocheng; Tang, Biao; Zeng, Lan; Pi, Guanghuan; Chen, Ai; Luo, Hongquan; Zhu, Shuyao Author Information
ABSTRACT Background Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods In this study, we conducted peripheral blood G‐banding karyotyping and whole‐exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, other multisystem anomalies. Additionally, was also carried out proband's parents brother. Results The 7‐month‐old found have 26.738 Mb 4p15.33‐p14 as identified by WES....
Abstract We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, displayed distinct clinical phenotypes, suggesting presence of non‐genetic factors influencing phenotypic variability this This represents first documented instance prenatally identified identical affected by
Abstract Background MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It characterized by delayed or absent speech development, severe motor and cognitive impairment, recurrent respiratory infections. MDS caused the of chromosomal region located on chromosome Xq28, which contains methyl CpG binding protein-2 ( ) gene. functions as transcriptional repressor activator, regulating genes associated with nervous system development. The objective...
Zhu, Hui; Shuyao; Wang, Qiyan; Lijuan; Jiang, Qiong; Hu, Yuhang; Huang, Yu; Zeng, Lan; Luo, Zemin Author Information
Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, neuropsychiatric disorders. dosage-sensitive genes are not disclosed preventing to establish genotype-phenotype correlation. We report case Chinese patient...
To explore the genetics mechanism for phenotypic variability in a patient carrying rare ring chromosome 9.The karyotype of was analyzed with cytogenetics method. Presence sex confirmed fluorescence situ hybridization. The SRY gene subjected to PCR amplification and direct sequencing. Potential deletion duplication were detected array-based comparative genomic hybridization (array-CGH).The has comprised 6 types cell lines containing 9. sequence normal. By array-CGH, carried hemizygous at...
To analyze 81 spontaneous abortion samples with fluorescence in situ hybridization (FISH).Chromosome 13, 21, 16, 22, 18, X and Y probes were used to detect the samples.FISH was successful 80 cases (98.77%). Among these, 35 (43.75%) had an abnormal karyotype, which included 19 autosomal aneuploidies, 6 sex chromosome 9 triploidies 1 tetraploidy.FISH is a rapid easy method for detecting chromosomal aneuploidies samples, has higher detection rate early samples.
Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autoregulatory factor-1 homology. VSVS characterized mild to severe intellectual disability (ID) and/or global developmental delay (GDD), seriously limited language expression, behavioral abnormalities, somnipathy, and reduced pain sensitivity. In this...
Abstract Background Noonan syndrome (NS) due to the RRAS2 gene, pathogenic variant is an extremely rare RASopathies. Our objective was identify potential site of , combined with literature review, find correlation between clinical phenotype and genotype. De novo missense mutations affect different aspects function, leading hyperactivation RAS‐MAPK signaling cascade. Methods Conventional G‐banding used analyze chromosome karyotype patient. Copy number variation sequencing (CNV‐seq) detect...
To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for detection fetal chromosomal aneuploidies and its values prenatal diagnosis.QF-PCR karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women.Both QF-PCR analysis have detected 135 cases involving chromosomes 21, 18, 13, X, Y. The assay was also successful in 67 which culture has failed. Furthermore, it identified maternal cell contamination 7 cases. By determining consistency short tandem...
To carry out G-banded chromosomal karyotyping and microarray analysis (CMA) for a fetus featuring multiple malformations.The was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly cleft palate. Following amniocentesis, G-band CMA were carried out.The had karyotype 47,XX,+i(12)(p10) [14]/46,XX[6]. has identified 33.9 Mb duplication at 12p13.33-p11.1, which suggestive tetrasomy 12p.Combined can delineate the origin...
Abstract Background: Gonadotropin releasing hormone (GnRH) plays an important role in the regulation of vertebrate reproduction. Studies have shown that immunization against GnRHa can induce sexually sterile tilapia. To explore mechanism behind this, this study, RNA-seq and data-independent acquisition (DIA) techniques were used to study transcriptome proteome gonad tilapia immunized with GnRHa. Results : 644 differentially expressed genes (80 upregulated 564 downregulated) 1150 proteins...