Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

• Published in: Egyptian Journal of Medical Human Genetics Vol. 23; no. 1; pp. 1 - 8
• Main Authors: Méndez-Rosado, Luis A., de León-Ojeda, Norma, García, Alina, Sheth, Frenny, Gaadi, Asmaa, Bousfiha, Ahmed Aziz, Lehlimi, Mouna, Natiq, Abdelhafid, Kurinnaia, Oxana S., Vorsanova, Svetlana G., Iourov, Ivan, Huhle, Dagmar, Liehr, Thomas
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 09.12.2022; Springer; Springer Nature B.V; SpringerOpen
• Subjects: Age groups; Aplasia; Cardiology; Cardiovascular disease; Clinical features; Communication; Congenital diseases; Congenital heart disease; Cultural differences; Cysts; Defects; del(q11.2q11.2); Diagnosis; DiGeorge syndrome (DGS); Genetic disorders; Heart; Heart diseases; Hypocalcemia; Hypoparathyroidism; Hypoplasia; Intellectual disabilities; Laboratories; Learning disabilities; Medical research; Medicine; Medicine & Public Health; Medicine, Experimental; Molecular diagnosis; Neurodevelopmental disorders; Patients; Thymic hypoplasia; Thymus gland; Ultrasonic imaging; White people; Morocco; Cuba; India; United States > US; Europe; Germany; del(q11.2q11.2); Clinical features; DiGeorge syndrome (DGS); Molecular diagnosis

Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic di...