Article
Prenatal ultrasound diagnosis of a 48,XXYY syndrome.
Morphologie : bulletin de l'Association des anatomistes - 1 Jun 2013
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P
Abstract excerpt
The 48,XXYY syndrome is a rare uncommon gonosome aneuploidy and its incidence is estimated to be 1:18,000-1:40,000. The phenotype associated with this syndrome, classically described as Klinefelter variant, is extremely variable but developmental abnormalities are always present. Ultrasound signs during pregnancy are inconsistent, and only three prenatal cases have been described in the literature. Here, we...
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