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  • Title: [Risk of missed diagnosis of 22q11.2 deletion in a fetal cardiac conotruncal malformation when another chromosomal abnormality is detected].
    Author: Picone O, Brisset S, Senat MV, Maurin ML, Frydman R, Tachdjian G.
    Journal: J Gynecol Obstet Biol Reprod (Paris); 2008 May; 37(3):299-301. PubMed ID: 18160230.
    Abstract:
    We present a rare case of prenatal diagnosis of two de novo chromosome structural rearrangements including a translocation (1;3) associated with a 22q11.2 deletion. The amniocentesis was performed because the systematic ultrasound examination revealed: right aortic cross with double aortic arch, with normal size of aorta and pulmonary artery. Our report emphasises that 22q11.2 deletion must be looked for when a fetal cardiac conotruncal malformation is diagnosed, even in the presence of another chromosomal abnormality. In prenatal diagnosis, this can have implication for patient management and genetic counselling.
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