Prenatal diagnosis of 22q11 microdeletion in an early second-trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci

Ultrasound in Obstetrics and Gynecology

Volumn 19, Issue 5, 2002, Pages 510-513

  Machlitt, A ^a   Tennstedt, C ^a   Korner H ^a   Bommer, C ^a   Chaoui, R ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Conotruncal anomaly; Echogenic focus; Microdeletion 22q11; Nuchal translucency; Thymus aplasia

Indexed keywords

ADULT; ANALYTIC METHOD; AORTA ARCH INTERRUPTION; ARTERIAL TRUNK; ARTICLE; CASE REPORT; CATCH 22 SYNDROME; CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ECHOCARDIOGRAPHY; FEMALE; FETUS; FETUS DEATH; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS MALFORMATION; GESTATIONAL AGE; HEART FAILURE; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPOTHESIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; THYMUS APLASIA;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY, DOPPLER; FEMALE; FETAL DEATH; GENE DELETION; HEART DEFECTS, CONGENITAL; HUMANS; HYDROPS FETALIS; NECK; PREGNANCY; PREGNANCY TRIMESTER, SECOND; ULTRASONOGRAPHY, DOPPLER, COLOR; ULTRASONOGRAPHY, PRENATAL;

EID: 0036091249     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2002.00688.x     Document Type: Article

References (19)

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6. Frequency of 22q11 deletions in patients with conotruncal defects
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19. Significance of chromosome 22q11 analysis after detection of an increased first-trimester nuchal translucency