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Partial trisomy 9—further delineation of the phenotype

✍ Scribed by Smart, Ronald D. ;Viljoen, Denis L. ;Fraser, Brian ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 275 KB
Volume: 31
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320310430

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✦ Synopsis

A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

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