AI Article Synopsis
- New cases of patients with distal 15q duplications are rare, and this report includes three new instances observed.
- The two surviving patients exhibited characteristics such as droopy eyelids (ptosis), smaller-than-average size, and delays in development, differing from previously described features of similar syndromes.
- The authors suggest that the previously identified distal 15q trisomy syndrome might be caused by a specific gene disruption rather than just having an extra copy of the chromosome region.
Article Abstract
Patients with trisomies or duplications of distal 15q have rarely been reported in the literature. Previous authors [Zollino et al., 1999: Am J Med Genet 87:391-394] have described a distal 15q trisomy syndrome, including the unusual features of prenatal overgrowth, tall stature, macrocephaly, and craniosynostosis. We report three new patients with a duplication of 15q24-q26.3; features common to the two surviving patients include ptosis, small size, and developmental delay. None of these patients had craniosynostosis or overgrowth. We propose that the previously described distal 15q trisomy syndrome [Zollino et al., 1999: Am J Med Genet 87:391-394] may result from specific disruption of a gene linked to 15q25, rather than partial trisomy for the region.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.20617 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.
Mol Genet Genomic Med
August 2022
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature.
View Article and Find Full Text PDFGenome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.
Mol Cytogenet
April 2022
Institute for Gynecology, Perinatology, and Infertility "Mehmedbašić", 71000, Sarajevo, Bosnia and Herzegovina.
Background: Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond aneuploidies and to expand detection of submicroscopic genomic alterations, as well as single-gene disorders might become possible.
View Article and Find Full Text PDFPrenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.
J Genet
September 2021
Department of Reproductive and Genetics, Hebei General Hospital, Hebei Province, No. 348 West Heping Road, Shijiazhuang 050051, People's Republic of China.
Dandy-Walker malformation (DWM) is characterized by complete or partial agenesis of the cerebellar vermis, cyatic dilatation of the forth ventricle, and enlarged posterior fossa. However, the mechanism is still not completely understood up to now. In this study, we reported a rare case that a foetus with DWM showed partial trisomy 12p and distal 15q deletion.
View Article and Find Full Text PDF15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.
Case Rep Med
May 2021
One Health Research Group, Faculty of Medicine, Universidad de Las Americas, Quito, Ecuador.
Background: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide.
View Article and Find Full Text PDFPrenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.
Exp Ther Med
April 2021
Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Distal trisomy or duplication of 15q is a very rare chromosomal disorder; most of the previously reported cases were derived from unbalanced translocations involving chromosome 15 and another chromosome, whereas other mechanisms (e.g. duplication) have rarely been reported.
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!