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De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts

✍ Scribed by Weaver, R. Grey ;Rao, Nagesh ;Thomas, Ioan T. ;Pettenati, Mark J.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 420 KB
Volume: 40
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320400428

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✦ Synopsis

We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.

KEY WORDS chromosome 2 inversion, eye

abnormalities, eye development

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