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;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.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11588/484354
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 9
social impact