The first case of six-way complex translocation of t(4;7;9;22;8;14) in a patient with chronic myeloid leukemia
AbstractIn chronic myeloid leukemia (CML), patients exhibit the t(9;22)(q34.1;q11.2) translocation, resulting in the formation of a Philadelphia chromosome (Ph). However, a subset of CML patients display variant complex translocations, characterized by three-way, four-way, and five-way translocations, which have been occasionally associated with a poor prognosis. This case report presents the first case of a t(9;22) variant six-way complex translocation in CML. The R banding chromosome karyotyping technique was used to obtain preliminary karyotyping results, and the multi-probe FISH technique was used to assist in the veri...
Source: Journal of Hematopathology - March 16, 2024 Category: Pathology Source Type: research
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 15, 2024 Category: Allergy & Immunology Source Type: research
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype —A case report and literature review
ConclusionWe report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 12, 2024 Category: Genetics & Stem Cells Authors: Xiaohuan Pi,
Qiming Zhang,
Xinghua Wang,
Fagang Jiang Tags: REVIEW ARTICLE Source Type: research
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review
CONCLUSION: We report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly.PMID:38465842 | DOI:10.1002/mgg3.2414 (Source: Molecular Medicine)
Source: Molecular Medicine - March 11, 2024 Category: Molecular Biology Authors: Xiaohuan Pi Qiming Zhang Xinghua Wang Fagang Jiang Source Type: research
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review
CONCLUSION: We report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly.PMID:38465842 | PMC:PMC10926652 | DOI:10.1002/mgg3.2414 (Source: Molecular Medicine)
Source: Molecular Medicine - March 11, 2024 Category: Molecular Biology Authors: Xiaohuan Pi Qiming Zhang Xinghua Wang Fagang Jiang Source Type: research
Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children
ConclusionProlonged duration of untreated PKD in children may elevate the risk of ADHD comorbidity. Notably, following a 2-year lamotrigine regimen, enhancements were observed in both cognitive test outcomes and ADHD symptomatology. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - March 11, 2024 Category: Psychiatry Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
Development has the answer: Unraveling psychiatric disorders via thalamocortical organoids
Cell Stem Cell. 2024 Mar 7;31(3):283-284. doi: 10.1016/j.stem.2024.02.008.ABSTRACTDissecting the role of the thalamus in neuropsychiatric disorders requires new models to analyze complex genetic interactions. In this issue of Cell Stem Cell, Shin et al. use patient-derived thalamocortical organoids to investigate 22q11.2 microdeletion impact on thalamic development, revealing significant transcriptional dysregulation linked to psychiatric disorders.PMID:38458174 | DOI:10.1016/j.stem.2024.02.008 (Source: Cell Stem Cell)
Source: Cell Stem Cell - March 8, 2024 Category: Stem Cells Authors: Eduardo Leyva-D íaz Emily S Wilson Guillermina L ópez-Bendito Source Type: research
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients
Obesity is known as a heterogeneous and multifactorial disease. The distribution of body fat is crucial for the development of metabolic complications. Comprehensive genetic analyses on different fat tissues are rare but necessary to provide more detailed information. Therefore, we performed genetic analyses of three patients with obesity using high resolution genome wide SNP array (blood, visceral fat tissue) and fluorescence in situ hybridization (FISH) analyses (visceral and subcutaneous fat tissue). Altogether, we identified 31 small Copy Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 7q...
Source: Frontiers in Genetics - March 7, 2024 Category: Genetics & Stem Cells Source Type: research
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
About 5 –10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from ho... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 6, 2024 Category: Genetics & Stem Cells Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant and Meena Upadhyaya Tags: Research Source Type: research
Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations
Intern Med. 2024;63(5):687-692. doi: 10.2169/internalmedicine.1660-23.ABSTRACT17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; kerato...
Source: Internal Medicine - March 3, 2024 Category: Internal Medicine Authors: Yutaka Hasegawa Yoshihiko Takahashi Kan Nagasawa Hirofumi Kinno Tomoyasu Oda Mari Hangai Yoshimi Odashima Yoko Suzuki Jun Shimizu Toshihiko Ando Isao Egawa Kouhei Hashizume Koji Nata Daisuke Yabe Yukio Horikawa Yasushi Ishigaki Source Type: research
