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7q deletion syndrome (7q32→7qter)
Author(s) -
Harris E. L.,
Wappner R. S.,
Palmer C. G.,
Hall B.,
Dinno N.,
Seashore M. R.,
Breg W. R.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb00932.x
Subject(s) - long arm , genetics , chromosome , biology , deletion syndrome , gene , phenotype
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→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.