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Article

Natural history of the recombinant (8) syndrome.

American journal of medical genetics - 15 Sept 1993

Sujansky E, Smith A C, Prescott K E, Freehauf C L, Clericuzio C, Robinson A

Abstract excerpt

The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1-->8qter] is due to a parental inv(8)(8pter-->8p23.1::8q22.1-->8p23.1::8q22+ ++.1-->8qter). All inv(8) parents we have studied were of Hispanic origin. The Rec(8) phenotype consists of a characteristic set of minor facial anomalies, cardiovascular and other major malformations, and moderate to severe mental retardation. The clinical phenotype is...

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Identifiers

PMID: 8256815
DOI: 10.1002/ajmg.1320470415

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