Microdeletion Syndromes Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders
Cell Stem Cell. 2024 Feb 13:S1934-5909(24)00040-7. doi: 10.1016/j.stem.2024.01.010. Online ahead of print.ABSTRACTThalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to study the mechanisms by which abnormalities emerge in the context of the 22q11.2 microdeletion, which confers significant genetic risk for psychiatric disorders. We investigated early stages of human thalamus development using human pluripotent stem cell-derived organoids and show that the 22q11.2 microdeletion underlies widespread transcriptional dysregulation associated with psychiatric disorders in thalamic neurons and g...
Source: Cell Stem Cell - February 21, 2024 Category: Stem Cells Authors: David Shin Chang N Kim Jayden Ross Kelsey M Hennick Sih-Rong Wu Neha Paranjape Rachel Leonard Jerrick C Wang Matthew G Keefe Bryan J Pavlovic Kevin C Donohue Clara Moreau Emilie M Wigdor H Hanh Larson Denise E Allen Cathryn R Cadwell Aparna Bhaduri Galina Source Type: research

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome
ConclusionWe detected an SD in 71.1% of our sample, with a positive relation between SD and internalizing and externalizing symptom levels, especially hyperactivity and impulsivity. Our study demonstrated a high prevalence of SD in pediatric patients with SoS, highlighting that all patients should be screened for this problem, which has a great impact on the quality of life of patients and their families. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 16, 2024 Category: Neurology Source Type: research

Long-Term Outcomes After Interrupted Aortic Arch Repair
CONCLUSIONS: Staged repair, type B IAA and need for LVOTO intervention during initial hospitalization for repair are associated with high risk of death out to 30 years. Survival outcomes are improving, but further efforts need to minimize staged approach and risks associated with LVOTO relief procedures.PMID:38360344 | DOI:10.1016/j.athoracsur.2024.02.009 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - February 15, 2024 Category: Cardiovascular & Thoracic Surgery Authors: J Cole Miller Romie N Velani Wade D Miller Amanda S Thomas Fawwaz R Shaw Lazaros Kochilas Source Type: research

Antenatal description of large 4q13.2q21.23 deletion and outcomes
CONCLUSION: From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.PMID:38351708 | DOI:10.1002/mgg3.2397 (Source: Molecular Medicine)
Source: Molecular Medicine - February 14, 2024 Category: Molecular Biology Authors: Anna-Ga ëlle Giguet-Valard Christelle Thevenin Sophie Dreux Val érie Decatrelle Marie-Laure Juve Soraya Yazza Clara Adenet Marion Lesueur Patrice Bouvagnet Mich èle Gueneret Source Type: research

Antenatal description of large 4q13.2q21.23 deletion and outcomes
ConclusionFrom the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 14, 2024 Category: Genetics & Stem Cells Authors: Anna ‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret Tags: ORIGINAL ARTICLE Source Type: research

Leukoencephalopathy caused by a 17p13.3 microdeletion
In this report, we describe a novel phenotype of extensive, confluent, paucisymptomatic adult-onset leukoencephalopathy in adults caused by a 248 kb microdeletion of 17p13.3, which unlike other similar microdeletion syndromes has no impact on psychomotor development and has not been associated with any syndromic or extraneurological features so far. Case descriptions The proband (patient... (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Wade, C., Williams, T., Labrum, R., Patel, Y., Cali, E., Davagnanam, I., Adams, M. E., Barkhof, F., Murphy, E., Chataway, J., Houlden, H., Lynch, D. S. Tags: Open access PostScript Source Type: research

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
This study highlightsTMEM260, especially c.1617del, as a major genetic cause of TA in the Japanese population. (Source: Journal of Human Genetics)
Source: Journal of Human Genetics - February 13, 2024 Category: Genetics & Stem Cells Source Type: research

Congenital diaphragmatic hernia in patient with 1p36 deletion
Key Clinical MessageThis case underscores the atypical presentation of late-onset congenital diaphragmatic hernia in a 9-old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention.AbstractCongenital Diaphragmatic Hernia (CDH) is a condition characterized by the protrusion of abdominal contents into the thoracic cavity due to a defect in the diaphragm. While typically observed in the neonatal period, CDH can present in later life. This case report describes the presentation, diagnosis, and management of a nine-year-old boy with 1p36 deletion syndrome who presented...
Source: Clinical Case Reports - February 10, 2024 Category: General Medicine Authors: Midhat Zihra, Ibad Rehmaan, Saman Amjed, Khawar Abbass, Ata ullah Khan, Anwaar ul Haq, Hashim Talib Hashim, Khadija Iqbal, Ahmed Dheyaa Al ‐Obaidi, Ahmed Qasim Mohammed Alhatemi, Ali Talib Hashim Tags: CASE REPORT Source Type: research

Mitochondrial deoxyguanosine kinase is required for female fertility in mice
In this study, we find that Dguok knockout results in female infertility. Mechanistically, DGUOK deficiency hinders ovarian development and oocyte maturation. Moreover, DGUOK deficiency in oocytes causes a significant reduction in mitochondrial DNA copy number and abnormal mitochondrial dynamics and impairs germinal vesicle breakdown. Only few DGUOK-deficient oocytes can extrude their first polar body during in vitro maturation, and these oocytes exhibit irregular chromosome arrangements and different spindle lengths. In addition, DGUOK deficiency elevates reactive oxygen species levels and accelerates oocyte apoptosis. Ou...
Source: Acta Biochimica et Biophysica Sinica - February 8, 2024 Category: Biochemistry Authors: Yake Gao Rui Dong Jiacong Yan Huicheng Chen Lei Sang Xinyi Yao Die Fan Xin Wang Xiaoyuan Zuo Xu Zhang Shengyu Yang Ze Wu Jianwei Sun Source Type: research

Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype
CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research