AI Article Synopsis
- The study aimed to investigate the genetic causes of a child's global developmental and intellectual disabilities.
- Techniques used for analysis included chromosome karyotyping, CNV-seq, and high-resolution chromosome banding to identify genomic variants in the child and parents.
- Results showed a specific deletion on chromosome 18 linked to Pitt-Hopkins syndrome in the child, which was not present in the parents, highlighting the effectiveness of these genetic testing methods.
Article Abstract
Objective: To explore the genetic etiology of a child featuring global developmental and mental retardation.
Methods: Chromosome G-banding karyotype analysis, copy number variation sequencing (CNV-seq) and high-resolution chromosome banding were used to screen the genomic variant in the child and his parents.
Results: Both the child and his father were found to have a karyotype of 46,XY,del(18)(q21.1q21.3), whilst his mother was 46,XX. CNV-seq analysis showed that the child was arr[19]18q21.2-q21.32(chr18:48 422 190-58 039 582)×1, with a 10.58 Mb deletion which encompassed the TCF4 gene. The same deletion was found in neither parent. High-resolution banding revealed that the father has a fragment of 18q21.1q21.3 inserted into 5p13.1.
Conclusion: The child was diagnosed with Pitt-Hopkins syndrome due to the 18q21.2q21.32 deletion. Chromosome karyotyping and CNV-seq can effectively identify submicroscopic chromosome anomalies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20210915-00750 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The efficacy analysis of robotic versus laparoscopic ipsilateral uretero-ureterostomy for upper urinary tract duplications in pediatric population.
Pediatr Surg Int
January 2025
Department of Pediatric Surgery, First Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China.
Objective: To review and compare robot-assisted ipsilateral ureteroureterostomy (RALUU) and laparoscopic ipsilateral uretero-ureterostomy (LUU) in terms of efficacy and outcomes.
Methods: Clinical data of 65 children with complete renal ureteral duplication deformity admitted to the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2022 were collected. Among these, 42 patients underwent laparoscopic ureteroureterostomy (LUU), designated as the LUU group, while 23 patients received robot-assisted laparoscopic ureteroureterostomy (RALUU), designated as the RALUU group.
Assessment of geochemistry and irrigation suitability of the River Ganga, Varanasi, India: PCA reduction for water quality index and health risk evaluation.
Environ Sci Pollut Res Int
January 2025
Institute of Environment and Sustainable Development, Banaras Hindu University, Varanasi, 221005, India.
Surface water chemistry of the River Ganga at Varanasi was analyzed at 10 locations over 3 years (2019-2021) across pre-monsoon, monsoon, and post-monsoon seasons. The study aimed to assess water parameters using principal component analysis (PCA), calculate the water quality index (WQI), determine processes governing water chemistry, evaluate irrigation suitability, and estimate non-carcinogenic health risks. The physical parameters measured included pH (8.
View Article and Find Full Text PDF[Accumulation of severe Streptococcus pyogenes infections among children admitted to the pediatric department of a county hospital].
Orv Hetil
January 2025
1 Bács-Kiskun Vármegyei Oktatókórház, Csecsemő- és Gyermekgyógyászati Osztály Kecskemét, Nyíri út 38., 6000 Magyarország.
Effects of Exercise Interventions on Blood Pressure in Children and Adolescents With Overweight or Obesity: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
J Adolesc Health
January 2025
Center for Clinical Big Data and Statistics of the Second Affiliated Hospital Zhejiang University School of Medicine, School of Public Health Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address:
Evaluating Clinician Experience in Health Care Transition: Results From Six Health Systems.
J Adolesc Health
January 2025
The National Alliance to Advance Adolescent Health/Got Transition, Washington, D.C.
Purpose: There is a paucity of evidence examining clinician experiences with structured health-care transition (HCT) programs. Among HCT Learning Collaborative participants, this study describes clinician experiences with implementation of a structured HCT process: Got Transition's 6 Core Elements.
Methods: Representative members from 6 health systems designed a survey to collect clinician feedback regarding HCT and demographic and practice information.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!