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A de novo tandem duplication 15(q21→qter) mosaic
Author(s) -
Yip MohYing,
Parsons Alan,
Hultén Maj
Publication year - 1982
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.1399-0004.1982.tb01401.x
Subject(s) - palpebral fissure , hypotonia , gene duplication , biology , tandem exon duplication , anatomy , medicine , genetics , gene
A tandem duplication of region 15(q21‐qter) occurred de novo in a mosaic infant with the following features: facial dimorphism with very small palpebral fissures, large prominent nose, micrographic, edematous hands and feet, short stubby fingers, muscular hypotonia and convulsive seizures.