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The 22q11 deletion syndrome is the most common chromosomal microdeletion, with a prevalence of 1 in 3 to 6000 live births. Two pediatric female cases with microdeletion in 22q11.2 will be presented by genomic hybridization with loss of 2.54 Mb and 3 Mb each. Case 1: 12 years old, with seizures, dysmorphic features, Ostium secundum. Case 2: 11 years old, palatal alteration, hypermobility, asymptomatic hypocalcemia, and vitamin D deficiency. Both share dysmorphic features, global neurodevelopmental delay, and normal karyotype. This study demonstrates key features of the syndrome that allows optimizing the diagnosis in future cases. [ABSTRACT FROM AUTHOR]

22q11.2 Deletion Syndrome or DiGeorge Syndrome is a genetic disorder characterized by the clinical triad conotruncal cardiac anomalies, thymic hypoplasia and hypocalcemia. However, the 22q11.2 phenotype is quite variable, including physical, metabolic, endocrinological and behavioral and developmental abnormalities. It includes a psychopathological association with different psychiatric syndromes. We describe the case of a 16-year-old male with diagnostic criteria for Autism Spectrum Disorder framed in a 22q11.2 Deletion Syndrome. [ABSTRACT FROM AUTHOR]

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There is an increased interest nowadays on ultrasound analysis of the fetal thymus. Abnormal fetal thymic growth have been associated with DiGeorge syndrome, conotruncal cardiac malformations, chromosomal abnormalities and adverse outcome in different perinatal conditions as intrauterine growth restriction, preterm birth and others. Different methodologies that measure the fetal thymus by ultrasound have been published, however there is not a consensus of which one is the most useful. Our aim is to describe these methodologies and discuss their clinical applications. [ABSTRACT FROM AUTHOR]

Background: 22q11.2 Deletion syndrome is a condition of abnormality development, characterized by a three-megabase microdeletion in chromosome 22q11. This problem is associated with a variety of phenotypes clinicians, including DiGeorge syndrome, which is characterized by cardiovascular, oropharyngeal, immunological, endocrine and neurological disorders. Case report: We report a 12-month age diagnosed as having DiGeorge syndrome who underwent inhalational general anesthesia for the channeling of a central line run by ultrasound. Discussion: We studied the potential problems for the conduct Anesthesia for patients diagnosed with DiGeorge syndrome. [ABSTRACT FROM AUTHOR]

Copyright of Iatreia is the property of Universidad de Antioquia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)