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A girl with severe expression of the Holt‐Oram gene
Author(s) -
Gardner R. J. M.,
Buckfield Patricia M.,
Veale A. M. O.
Publication year - 1973
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.1399-0004.1973.tb01170.x
Subject(s) - girl , gene , pediatrics , medicine , genetics , biology
The case of a baby girl with severe manifestations of the Holt‐Oram syndrome is described. She had a complete a‐v canal defect, and only a stump of upper limb tissue on the left side. Defects as severe as these have not before been reported in the Holt‐Oram syndrome. Three relatives were affected to a very much lesser extent. Some comments are made on the Holt‐Oram syndrome and on the nature of the gene which causes it.