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The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.
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Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China; Department of Neck and Thoracic Surgery, Yingde People's Hospital, Yingde, Guangdong, China. Electronic add
Background: Recurrent 10p15.3 microdeletion syndrome is a rare multisystem disorder characterized by abnormal facial features, global developmental delay (DD)/intellectual disability (ID), short stature, hand/foot malformation, and congenital heart defects (CHDs). However, the specific genetic defects that contribute to the cardiac phenotype remain unclear.
View Article and Find Full Text PDFDe novo inherited Xq25 deletion: hints from preimplantation genetic testing in alobar holoprosencephaly.
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August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.
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Department of Clinical Genetics, Juntendo University Graduate School of Medicine, Bunkyo, Japan.
Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the SCN1A gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce SCN1A transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.
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Interdiscplinary Program in Neuroscience, George Mason University, Fairfax, Virginia, United States of America.
Human 15q13.3 microdeletion syndrome (15q13mds) is a genetic disorder caused by a heterozygous deletion of multiple genes, including the CHRNA7 gene, which encodes the α7 nicotinic acetylcholine receptor (α7 nAChR). This condition is associated with significant neurodevelopmental impairments and an increased risk of seizures, with studies indicating reduced α7 nAChR expression in affected individuals.
View Article and Find Full Text PDFPrenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A Review.
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Medical Genetics and Genomic Unit, San Bortolo Hospital, 36100 Vicenza, Italy.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the gene or its upstream enhancer region on chromosome 16q24.1.
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