Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect

Ultrasound in Obstetrics and Gynecology

Volumn 11, Issue 1, 1998, Pages 68-70

  Paladini, D ^a,d   Pacileo, G ^b   Palmieri, S ^a   Russo, M G ^b   Conti, A ^a   Piccola, B D ^c   Martinelli, P ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d NONE   (Italy)

Author keywords

Conotruncus; DiGeorge syndrome; FISH; Heart defect; Microdeletion 22q11

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FEMALE; FETUS; HUMAN; MALE; NEWBORN; PATIENT COUNSELING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

AMNIOCENTESIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION; PREGNANCY; PULMONARY ATRESIA; ULTRASONOGRAPHY, DOPPLER, COLOR; ULTRASONOGRAPHY, DOPPLER, PULSED; ULTRASONOGRAPHY, PRENATAL;

EID: 0031882991     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1998.11010068.x     Document Type: Article

References (10)

1. Matsuoka R, Takao A, Kimura M, Shin-ichiro I, Kondo C, Joh-o K. Confirmation that the conotruncal anomaly face is associated with a deletion within 22q11.2. Am J Med Genet 1994;53:285-9
2. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai E, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993;30:813-17
3. Van Hemel JO, Schaap C, Van Opstal D, Mulder MP, Niermeijer MF, Meijers JHC. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J Med Genet 1995;32:657-8
4. Goldmuntz E, Driscoll DA, Budarf ML. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 1993;30:807-12
5. Puder KS, Humes RA, Gold RL, Bawle EV, Goyert GL. The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly. Am J Obstet Gynecol 1995;173: 239-41
6. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka GD, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dalla Piccola B. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996;58:722-9
7. Kirklin JW, Barratt-Boyes BG. Cardiac Surgery, 2nd edn. New York: Churchill Livingstone, 1993
8. Paladini D, Rustico MA, Todros T, Palmieri S, Gaglioti P, Benettoni A, Russo MG, Chiappa E, D'Ottavio G. Conotruncal anomalies in prenatal life. Ultrasound Obstet Gynecol 1996;8:241-6
9. Allan LD, Sharland GK. Prognosis in fetal tetralogy of Fallot. Pediatr Cardiol 1992;13:1-4
10. Jones KL. Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia: W. B. Saunders, 1997: 266 and 616