Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Genetic analysis of partial duplication of the long arm of chromosome 16.
BMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
View Article and Find Full Text PDFPrenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review.
Radiol Case Rep
January 2025
Images Ultrasound Centre, New Delhi, India.
Article Synopsis
- Terminal 7q deletion syndrome is a rare genetic condition caused by the loss of part of the long arm of chromosome 7, leading to various health issues.
- The case report discusses a prenatal diagnosis where ultrasound detected severe abnormalities, including holoprosencephaly and facial deformities, prompting the termination of the pregnancy.
- A chromosomal microarray analysis later confirmed a deletion of about 5.5 MB in the 7q36.2-36.3 region, and a literature review was conducted to compile ultrasound features associated with this syndrome.
Article Synopsis
- Chromosomal trisomy syndrome can cause various issues, including intellectual disabilities, and partial trisomy of distal 17q is a rare variant with similar problems like growth deficits and facial differences.
- This study describes three patients from two families with terminal trisomy 17q, including a child with a mosaic duplication on chromosome 17 and dizygotic twins with both a deletion on chromosome 15 and a duplication on chromosome 17.
- The research highlights the genetic mechanisms of these abnormalities and offers valuable insights for diagnosing partial trisomy 17q, aiding in understanding genotype-phenotype links for better genetic counseling.
A Case of X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp.
Intern Med
September 2024
Department of Neurology, National Hospital Organization Higashi-ohmi General Medical Center, Japan.
Abnormalities in genes on the X chromosome or large defects in the X chromosome itself cause X-linked intellectual disability. The proband was a 27-year-old man. His medical history included strabismus, cryptorchidism, and severe intellectual disabilities.
View Article and Find Full Text PDFPrenatal Clinical Presentation and Genetic Analysis of Partial Trisomy 12: A Case Report.
Cureus
August 2024
Cellular Biology and Anatomy, Louisiana State University Health Sciences Center, Shreveport, USA.
Trisomy 12 is a rare chromosomal abnormality characterized by the presence of an extra copy of chromosome 12 in some or all cells. This condition can present with a variety of phenotypic manifestations, depending on the extent of mosaicism and the specific genes involved. Prenatal diagnosis of trisomy 12 is challenging due to its variable presentation and potential overlap with other chromosomal abnormalities.
View Article and Find Full Text PDFWant 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!