alexa Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).


Journal of Clinical & Experimental Cardiology

Author(s): Foley P, McAuliffe F, Mullarkey M, Reardon W

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Abstract A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome. This article was published in Clin Dysmorphol and referenced in Journal of Clinical & Experimental Cardiology

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