A case of prenatal diagnosis of 22q11 microdeletion in ii fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed.
Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect / Paladini, Dario; Pacileo, G; Palmieri, S; Russo, Mg; Conti, Anna; Piccola, Bd; Martinelli, Pasquale. - In: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. - ISSN 0960-7692. - 11:(1998), pp. 68-70. [10.1046/j.1469-0705.1998.11010068.x]
Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect
PALADINI, DARIO;CONTI, ANNA;MARTINELLI, PASQUALE
1998
Abstract
A case of prenatal diagnosis of 22q11 microdeletion in ii fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
