Prenatal detection of de novo inversion of chromosome (2) (p13q11.2) and postnatal follow-up.
PRENATAL DIAGNOSIS(1996)
摘要
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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关键词
chromosome 2 inversion,pericentric inversion,gustatory flushing syndrome,hypotonia,de novo inversion
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