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Am J Med Genet. 1988 Dec;31(4):947-51.

Partial trisomy 9--further delineation of the phenotype.

Author information

1
Department of Human Genetics, Medical School, University of Cape Town, South Africa.

Abstract

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.

PMID:
3239584
DOI:
10.1002/ajmg.1320310430
[Indexed for MEDLINE]

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