HEART DISEASE IN VELO-CARDIO-FACIAL SYNDROME (SVCF)

Autor: Alina- Costina LUCA, Anca Maria TICU, Heidrun ADUMITRACHIOAIEI

Publikováno v: SEA: Practical Application of Science, Vol X, Iss 28 (1/2022), Pp 33-36 (2022)

Velo-cardio-facial syndrome or chromosome deletion 22q11.2, is the most common chromosomal microdeletia, estimated at approx. 1:4000 people. The syndrome is a heterogeneous entity that includes multiple birth defects: cardiac, facial, gastrointestina

Externí odkaz: https://doaj.org/article/03fe7628033546b4932de82463071a86

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

Autor: Francesca Clementina Radio, Bruno Dallapiccola, Bruno Marino, Antonio Novelli, Rossella Capolino, Maria Cristina Digilio, Viola Alesi, Marta Unolt, Maria Lisa Dentici

Publikováno v: American Journal of Medical Genetics Part A. 170:661-664

Sprengel anomaly (SA) is a rare skeletal defect characterized by uni- or bi-lateral elevation of the scapula. This anomaly is often isolated, although it can occur in association with other defects, including cervical spine malformations, cleft palat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::705615065b3c63acbd454458a09ea962
https://doi.org/10.1002/ajmg.a.37503

22q11.2 DS syndrome as a genetic subtype of schizophrenia

Autor: Huertas-Rodríguez, Cindy Katherin, Payán-Gómez, César, Forero-Castro, Ruth Maribel

Publikováno v: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Revista Colombiana de Psiquiatría, Volume: 44, Issue: 1, Pages: 50-60, Published: JAN 2015

Introducción: El síndrome de deleción 22q11.2 (22q11.2 DS) se produce por microdeleciones del brazo largo del cromosoma 22 en la región q11.2. Después del síndrome de Down, es el segundo síndrome genético más común. En pacientes con esquizo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a3038b26a504513ed93eafe303438e04
https://repository.urosario.edu.co/handle/10336/23050

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

Autor: Carrie L. Heike, Charles Catania, Elaine H. Zackai, Bruno Dallapiccola, Bruno Marino, Donna M. McDonald-McGinn, M. Cristina Digilio

Publikováno v: American journal of medical genetics. Part A. (12)

We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital hear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f6b421809507ecfcd4e98518a82003
https://pubmed.ncbi.nlm.nih.gov/19890921

DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood

Autor: Philip C, Johnston, Deirdre E, Donnelly, Deirdre K, Donnelly, Patrick J, Morrison, Steven J, Hunter

Publikováno v: The Ulster Medical Journal

We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velophary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::60c3be55168d1b7d9290004b30a1df3d
https://pubmed.ncbi.nlm.nih.gov/18956803