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PRENATAL DETECTION OF DE NOVO INVERSION OF CHROMOSOME (2) (p13q11.2) AND POSTNATAL FOLLOW-UP

✍ Scribed by CHAHIRA KOZMA; CHERYL SUBASINGHE; JEANNE MECK

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 917 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199604)16:4<366::aid-pd863>3.0.co;2-z

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✦ Synopsis

We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13ql1.2 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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