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Down syndrome due to partial trisomy 21q
Author(s) -
Cervenka Jaroslav,
Gorlin Robert J.,
Djavadi Gholman Reza
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.tb01288.x
Subject(s) - trisomy , chromosome 21 , partial trisomy , down syndrome , phenotype , genetics , chromosome , biology , medicine , karyotype , gene
A patient is reported with a typical Down syndrome phenotype, caused by partial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.