Introduction: Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability.
Case Presentation: We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype. The microarray assay exhibited a 19.35-Mb gain at 12q24.21q24.33 due to ins(21;12)(p11.2;q24.21q24.33)mat.
Discussion And Conclusion: The duplicated region in the patient encompasses 219 genes, 24 considered as pathological. No relation between epilepsy and the genes reported as pathological has been reported.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801331 | PMC |
| http://dx.doi.org/10.1159/000521640 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype.
Mol Syndromol
December 2022
Hospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.
Introduction: Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability.
Case Presentation: We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
April 2020
Pittsburgh Cytogenetics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania.
Children or adults with mosaic trisomy 12 diagnosed postnatally are extremely rare. Only a small number of patients with this mosaicism have been reported in the literature. The clinical manifestation of mosaic trisomy 12 is variable, ranging from mild developmental delay to severe congenital anomaly and neonatal death.
View Article and Find Full Text PDFActivation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.
Ann Hematol
February 2019
Central European Institute of Technology, Center of Molecular Medicine, Masaryk University, Kamenice 5/A35, 625 00, Brno, Czech Republic.
Article Synopsis
- Activation-induced cytidine deaminase (AID) is a crucial enzyme involved in immune processes, and its abnormal activity is linked to various cancers, including chronic lymphocytic leukemia (CLL).
- In a study of 149 CLL patients, researchers quantified different AID variants and found a connection between higher AID levels and trisomy of chromosome 12, a genetic abnormality.
- Functional assessments showed that the altered AID splice variants had reduced activity for important processes like somatic hypermutation and DNA break induction, and modeling studies suggested structural changes leading to their loss of function.
7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.
Mol Syndromol
December 2017
Access to genome (ATG P.C.), Clinical Laboratory Genetics, University of Athens, Athens, Greece.
Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described.
View Article and Find Full Text PDFDrug-perturbation-based stratification of blood cancer.
J Clin Invest
January 2018
Department of Medicine V, University Hospital Heidelberg, Heidelberg, Germany.
Article Synopsis
- Researchers studied 246 blood cancers and their responses to 63 drugs to uncover how different genetic mutations affect drug sensitivity.
- They found that in chronic lymphocytic leukemia (CLL), a large portion of drug responses were connected to multiple mutations, especially involving the B cell receptor pathway and trisomy 12.
- The findings suggest that mutations and signaling pathways can inform treatment strategies, highlighting the importance of genetic factors like IGHV mutation status in predicting responses to cancer therapies.
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!