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Prenat Diagn. 1996 Apr;16(4):366-70.

Prenatal detection of de novo inversion of chromosome (2) (p13q11.2) and postnatal follow-up.

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  • 1Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007-3935, USA.


We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13q11.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndrome, and severe developmental delays. The literature on chromosome 2 inversion is reviewed.

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