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7q deletion syndrome (7q32→7qter)

1977; Wiley; Volume: 12; Issue: 4 Linguagem: Inglês

10.1111/j.1399-0004.1977.tb00932.x

1399-0004

E. L. Harris, Rebecca S. Wappner, Catherine G. Palmer, Bertil Hall, Nuhad D. Dinno, Margretta R. Seashore, W. Roy Breg,

Congenital Ear and Nasal Anomalies

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.