The report relates to a new case of small supernumerary metacentric chromosome. The phenotypical variability of previously published cases suggests that this chromosomal anomaly may arise from multiple origins. Our study shows the difficulties of a cytogenetic interpretation and the limits of the semeiologic arguments. It is, however, possible to hypothesize an 18 partial trisomy.
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Oral Dis
January 2025
Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
Objective: To evaluate the frequency of tooth anomalies (TA) in the deciduous and permanent dentition of patients with nonsyndromic orofacial clefts (NSOC), both inside and outside the cleft area.
Methods: The following databases were searched for the relevant literature: Cochrane, OVID, SciELO, Embase, Livivo, PubMed, Scopus, and Web of Science. The risk of bias was analyzed using the Joanna Briggs Institute.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).
Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.
Contemp Clin Dent
September 2024
Department of Oral and Maxillofacial Surgery, Rural Dental College, Loni, Maharashtra, India.
Ectopic teeth arise from developmental abnormalities and can be supernumerary, deciduous, or permanent teeth. They can cause orofacial pain, swelling, and infection. There is a major paucity in literature about ectopic mandibular third molar (EMTM) and its causes, symptoms, and treatment.
View Article and Find Full Text PDFGenome Res
November 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden;
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.
View Article and Find Full Text PDFNat Commun
October 2024
Department of Medicine, Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
SUMOylation regulates numerous cellular stress responses, yet targets in the apoptotic machinery remain elusive. We show that a single, DNA damage-induced monoSUMOylation event controls PIDDosome (PIDD1/RAIDD/caspase-2) formation and apoptotic death in response to unresolved DNA interstrand crosslinks (ICLs). SUMO-1 conjugation occurs on conserved K879 in the PIDD1 death domain (DD); is catalyzed by PIAS1 and countered by SENP3; and is triggered by ATR phosphorylation of neighboring T788 in the PIDD1 DD, which enables PIAS1 docking.
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