High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers...

Full description

Bibliographic Details
Main Authors:	A.C. Pereira, R.F.R. Corrêa, G.F. Mota, C.A. Kim, S.F. Mesquita, J.E. Krieger
Format:	Article
Language:	English
Published:	Associação Brasileira de Divulgação Científica 2003-10-01
Series:	Brazilian Journal of Medical and Biological Research
Subjects:	DiGeorge syndrome PCR screening 22q11.2
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012

Similar Items

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
by: Narges Nouri, et al.
Published: (2016-01-01)

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome
by: Raad A. Haddad, et al.
Published: (2019-08-01)

Síndrome de deleção 22q11.2: importância da avaliação clínica e técnica de FISH 22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis
by: Dayane Bohn Koshiyama, et al.
Published: (2009-01-01)

Immune Defects in Chromosome 22q11.2 Deletion Syndromes
by: Bobey, Nicola A.
Published: (2010)

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
by: Bahar Gokturk, et al.
Published: (2016-06-01)

22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter
by: Antonio Baldini, et al.
Published: (2011-07-01)

Consideraciones anestésicas enpacientes con microdeleción del cromosoma 22q11
by: Ignacio Barra C., et al.
Published: (2019-03-01)

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome
by: Gloria Colarusso, et al.
Published: (2010-06-01)

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
by: M. Fernanda Rozas, et al.
Published: (2019-08-01)

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
by: Li Deling, et al.
Published: (2012-04-01)

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
by: Kathleen Rooney, et al.
Published: (2021-08-01)

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome
by: Qiumei Du, et al.
Published: (2020-02-01)

Optimisation de la différenciation neuronale et musculaire de cellules pluripotentes induites humaines pour la modélisation des maladies rares : exemple du syndrome de DiGeorge
by: Badja, Cherif
Published: (2015)

DiGeorge Syndrome: a not so rare disease
by: Angela BF Fomin, et al.
Published: (2010-01-01)

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function
by: Maria Zoupa, et al.
Published: (2018-06-01)

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother
by: Chih-Ping Chen, et al.
Published: (2021-01-01)

Abnormal spirometry in adults with 22q11.2 microdeletion and congenital heart disease
by: Christina Blagojevic, et al.
Published: (2021-05-01)

Síndrome de deleção 22q11.2 e cardiopatias congênitas 22q11.2 deletion syndrome and congenital heart defects
by: Rafael Fabiano M. Rosa, et al.
Published: (2011-06-01)

Hipocalcemia Neonatal e Baixa Estatura por Delecção em 2411 2
by: Jorge M. Saraiva, et al.
Published: (2014-09-01)

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the <it>VPREB1 </it>marker case
by: Costa Elena, et al.
Published: (2011-05-01)

An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome
by: Yasutaka Tastuzawa, et al.
Published: (2015-01-01)

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance
by: Nicole E Spruijt, et al.
Published: (2014-07-01)

Verhaltensauffälligkeiten und elterliche Stressbelastung bei 22q11.2- Deletionssyndrom - eine Längsschnittstudie
by: Andritschky, Christoph
Published: (2013)

The Barriers and Quality of Care Issues for Individuals Diagnosed with 22q11.2 Deletion Syndrome
by: Miller, Barbara Bavette
Published: (2017)

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome
by: Cabaral Margarita H, et al.
Published: (2012-04-01)

Obstructive sleep apnea syndrome in children with 22q11.2 deletion syndrome after operative intervention for velopharyngeal insufficiency
by: David Jeffrey Crockett, et al.
Published: (2014-08-01)

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult
by: Melissa Elise van der Meijs, et al.
Published: (2021-04-01)

Síndrome de deleção 22q11 e cardiopatias congênitas complexas 22q11.2 deletion syndrome and complex congenital heart defects
by: Rafael Fabiano Machado Rosa, et al.
Published: (2011-02-01)

Persistent Feeding and Swallowing Deficits in a Mouse Model of 22q11.2 Deletion Syndrome
by: Lauren Welby, et al.
Published: (2020-01-01)

MicroRNA dysregulation, gene networks and risk for schizophrenia in 22q11.2 deletion syndrome
by: Daniele eMerico, et al.
Published: (2014-11-01)

Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology
by: Sanders, Ashley F. P.
Published: (2016)

Hematological abnormalities and 22q11.2 deletion syndrome
by: Rafael Fabiano Machado Rosa, et al.
Published: (2011-01-01)

Anterior laryngeal membrane and 22q11 deletion syndrome Membrana laríngea anterior e Síndrome de deleção 22q11
by: Rafael Fabiano Machado Rosa, et al.
Published: (2011-08-01)

Síndrome de deleção 22q11.2: compreendendo o CATCH22 22q11.2 deletion syndrome: catching the CATCH22
by: Rafael Fabiano M. Rosa, et al.
Published: (2009-06-01)

Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country
by: Amina Kurtovic-Kozaric, et al.
Published: (2016-03-01)

Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el Síndrome de DiGeorge = Cytogenetic evaluation and loss of heterozigocity of chromosome 22q11.2 in patients with the DiGeorge syndrome
by: Gallego García, Germán Andreo, et al.
Published: (2011-09-01)

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
by: Małgorzata Karbarz
Published: (2020-08-01)

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
by: Candelo E, et al.
Published: (2021-06-01)

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
by: JUAN FRANCISCO CALDERÓN, et al.
Published: (2009-01-01)

Camptodactyly and DiGeorge syndrome: A rare hand anomaly
by: C.M. Hurley, et al.
Published: (2021-06-01)

Cannot write session to /tmp/vufind_sessions/sess_j68rqn08tq758rndqkgl2rrfvq