Clinical Manifestations of 22q11.2 Deletion Syndrome.

Chromosome Deletion DiGeorge Syndrome / diagnosis Heart Defects, Congenital Humans In Situ Hybridization, Fluorescence Karyotyping Marfan Syndrome
22q11.2 deletion syndrome Aortic arch abnormalities Conotruncal abnormalities Di George syndrome

Journal

Heart failure clinics
ISSN: 1551-7136
Titre abrégé: Heart Fail Clin
Pays: United States
ID NLM: 101231934

Informations de publication

Date de publication:
Jan 2022
Historique:
entrez: 15 11 2021
pubmed: 16 11 2021
medline: 26 11 2021
Statut: ppublish

Résumé

DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

Identifiants

DOI: 10.1016/j.hfc.2021.07.009 PMID: 34776076
pubmed: 34776076
pii: S1551-7136(21)00078-7
doi: 10.1016/j.hfc.2021.07.009
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

155-164

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure The authors have nothing to disclose.

Auteurs

Annapaola Cirillo (A)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Michele Lioncino (M)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Annachiara Maratea (A)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Annalisa Passariello (A)

Pediatric Cardiology Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Adelaide Fusco (A)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Fiorella Fratta (F)

Pediatric Cardiology Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Emanuele Monda (E)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Martina Caiazza (M)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Giovanni Signore (G)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Augusto Esposito (A)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Anwar Baban (A)

Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Viale Di San Paolo, 15, 00165 Rome, Italy.

Paolo Versacci (P)

Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy.

Carolina Putotto (C)

Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy.

Bruno Marino (B)

Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy.

Claudio Pignata (C)

Department of Translational Medical Sciences - Section of Pediatrics, University of Naples Federico II, Via S. Pansini, 5, 80131 Naples, Italy.

Emilia Cirillo (E)

Department of Translational Medical Sciences - Section of Pediatrics, University of Naples Federico II, Via S. Pansini, 5, 80131 Naples, Italy.

Giuliana Giardino (G)

Department of Translational Medical Sciences - Section of Pediatrics, University of Naples Federico II, Via S. Pansini, 5, 80131 Naples, Italy.

Berardo Sarubbi (B)

Adult Congenital Heart Diseases Unit, AORN dei Colli, Monaldi Hospital, Naples.

Giuseppe Limongelli (G)

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Maria Giovanna Russo (MG)

Pediatric Cardiology Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy. Electronic address: mariagiovanna.russo@unicampania.it.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Aneuploïdie › Monosomie › Délétion de segment de chromosome › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Maladies endocriniennes › Maladies de la parathyroïde › Hypoparathyroïdie › Syndrome de délétion 22q11 › Syndrome de DiGeorge › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Hybridation in situ › Hybridation fluorescente in situ › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse cytogénétique › Caryotypage › Clinical Manifestations of 22q11.2 Deletion Syndrome.
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Syndrome de Marfan › Clinical Manifestations of 22q11.2 Deletion Syndrome.