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22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
Genes (Basel)
January 2025
Section of Cytogenetics, Oncology Department, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.
View Article and Find Full Text PDF[DiGeorge syndrome with specific endocrine abnormalities in 2 children].
Zhonghua Er Ke Za Zhi
February 2025
Department of Pediatric Surgery, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Six at Sixty. 'Have you tested for 22q?'.
J Med Genet
January 2025
Developmental Biology and Cancer, UCL GOS Institute of Child Health, London, UK
In 1997, the published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with an extraordinary range of clinical features, which led initially to its association with several diagnostic labels. Since 1997 work on clinical and basic science aspects of the syndrome and the genes reduced to hemizygosity have provided a wealth of information pertaining to both best practice care and underlying biology.
View Article and Find Full Text PDFInherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.
Semin Thromb Hemost
January 2025
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.
View Article and Find Full Text PDFCardiac Resynchronization Therapy for Pacing-Related Dysfunction Post Cardiac Surgery in Neonates.
Ann Thorac Surg Short Rep
December 2024
Department of Pediatric Cardiothoracic Surgery, Children's Hospital of New Orleans, New Orleans, Louisiana.
An infant with DiGeorge syndrome, multiple comorbidities, and truncus arteriosus type II underwent repair complicated by heart block necessitating placement of a dual-chamber bipolar pacing system with right ventricular leads and subsequent resynchronization with placement of left ventricular apical pacing leads. Resynchronization therapy improved QRS duration from 180 ms to 100 ms and ejection fraction from 25% to 54% over the course of 4 weeks with gradual return to normal function and eventual discharge.
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