Published in The American Journal of Case Reports
Patient: Female, 14-year-old Final Diagnosis: 22q11.2DS with vestibular dysfunction Symptoms: Balance problems Medication:— Clinical Procedure: Comprehensive balance assessment Specialty: Otolaryngology Objective: Challenging differential diagnosis Background: The 22q11.2 deletion syndrome (22q11.2DS) is the most common identified microdeletion in ...
Published in MedEdPORTAL : the Journal of Teaching and Learning Resources
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field. Medical students receive a foundation in genetics during preclinical studies, but variability in clinical experience may limit knowledge of and recruitment into th...
Published in The American Journal of Case Reports
Patient: Female, 9 Final Diagnosis: Mandibular hypoplasia secondary to Shprintzen-Goldberg Syndrome Symptoms: Difficulty swallowing Medication: — Clinical Procedure: Bilateral mandibular osteotomy and distraction for mandibular hypolasia Specialty: Neurosurgery Objective: Rare disease Background: Shprintzen-Goldberg syndrome (SGS) is an extremely r...
Published in Acta medica portuguesa
Introdução: A síndrome de DiGeorge/deleção 22q11.2 pode apresentar um grau variável de imunodeficiência, condicionando a utilização de vacinas vivas. Este estudo teve como objetivo documentar os efeitos adversos de vacinas vivas e possível relação com alterações imunitárias em crianças com síndrome de DiGeorge/deleção 22q11.2 parcial. Material e Mé...
The 22q11.2 deletion syndrome (22q11.2DS) confers high risk of neurodevelopmental disorders such as schizophrenia and attention-deficit hyperactivity disorder. These disorders are associated with attentional impairment, the remediation of which is important for successful therapeutic intervention. We assessed a 22q11.2DS mouse model (Df(h22q11)/+) ...
Published in The mental health clinician
DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0.015% to ...
Published in Journal of Cardiovascular Development and Disease
Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features of 22q11.2 deletion syndrome. Tbx1 is expressed dynamically in the pharyngeal apparatus during mouse development and Tbx1 homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. These abn...
BACKGROUND:Although the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates of their population prevalence, mortality, disease risks, and diagnostic trajectories are absent. We aimed to provide the true population prevalence of 22q11.2 CNVs and associated trajectory of disease r...
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30-40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intellectual disability, are not completely penetrant and...
Occurring in at least 1 in 3,000 live births, chromosome 22q11.2 deletion syndrome (22q11DS) produces a complex phenotype that includes a constellation of medical complications such as congenital cardiac defects, immune deficiency, velopharyngeal dysfunction, and characteristic facial dysmorphic features. There is also an increased incidence of psy...
