Co-existence of other copy number variations with 22q11.2 deletion or duplication: A modifier for variable phenotypes of the syndrome?

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Li, Deling ^a   Tekin, Mustafa ^a   Buch, Maria ^b   Fan, Yao Shan ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b JACKSON MEMORIAL HOSPITAL   (United States)

Author keywords

22q11.2 microdeletion; 22q11.2 microduplication; Array CGH; Copy number variations (CNVs); DiGeorge syndrome

Indexed keywords

ANEMIA; APGAR SCORE; ARTICLE; BIRTH WEIGHT; CARDIOMEGALY; CASE REPORT; CESAREAN SECTION; CHROMOSOME DELETION 22Q11; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FEMALE; GENETIC ASSOCIATION; GESTATIONAL AGE; HEART MURMUR; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTENSION; IMAGE RECONSTRUCTION; INFANT; INTRAUTERINE GROWTH RETARDATION; LUNG EDEMA; MALE; MICROGNATHIA; NUTRITIONAL INTOLERANCE; PATENT FORAMEN OVALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PULMONARY VALVE; PULMONARY VALVE STENOSIS; RESPIRATORY DISTRESS; SYSTOLE; SYSTOLIC HEART MURMUR; TACHYPNEA; THORAX RADIOGRAPHY;

EID: 84859408954     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-18     Document Type: Article

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