Clinical variability of chromosome 22q11.2 deletion syndrome

Central-European Journal of Immunology
Oksana BoyarchukLiubov Dmytrash

Abstract

22q11.2 deletion syndrome (22q11.2 DS) is a disorder that has multiple symptoms and affects various organs and systems. Despite the great variability of clinical manifestations, common 22q11.2 DS includes congenital heart defect, immunodeficiency, characteristic facial features, palatal defects, developmental and/or learning disabilities, and hypocalcaemia. We present the cases of three patients with 22q11.2 DS that we have observed. Heart defects were revealed in all cases, and tetralogy of Fallot in one of them. Immune system disorders in these cases were highly variable and did not correlate with aplasia or hypoplasia of the thymus. Cleft palate was diagnosed only in one case. Characteristic facial features were presented in all cases but they were not significant and varied from subtle to mild. Developmental disability was presented by motor delays in two cases. Hypocalcaemia was revealed in one patient, and seizures were absent. Only one case completely fit CATCH-22 syndrome (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcaemia caused by22q11.2 deletion). The other cases had three out of the five main features, with some other, less significant signs also presented. In some cases, even just ...Continue Reading

Citations

Feb 12, 2020·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Yabing WangXiaoping Xing
May 11, 2021·Journal of Toxicology and Environmental Health. Part a·Beatriz Mitidiero Stachissini ArcainCarla Vermeulen Carvalho Grade
Jul 28, 2021·Developmental Neuropsychology·Andrea WierzchowskiVeronica Bordes Edgar

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Methods Mentioned

BETA
flow cytometry
X-ray
lavage

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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