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Contribution to the 18q‐ syndrome. A patient with del (18) (q22.3qter)
Author(s) -
Felding I.,
Kristoffersson U.,
Sjöström H.,
Norén O.
Publication year - 1987
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.1399-0004.1987.tb02797.x
Subject(s) - genetics , deletion syndrome , biology , medicine , endocrinology , gene , phenotype
A patient with the typical features of the 18q‐ syndrome, but with the deletion restricted to the most distal part, bands q22.3‐“qter is reported. The cytogenetic finding is supported by a decrease in activity of the enzyme peptidase A.