Open AccessTrisomy 22 syndrome in a 26‐year‐old female—A follow‐up examination
Author(s) -
ANNERÉN GöRAN,
GUSTAVSON KARLHENRIK
Publication year - 1981
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1981.tb01733.x
Subject(s) - trisomy , karyotype , biology , trisomy 8 , down syndrome , genetics , chromosome , gene
A 26‐year‐old female with a complete trisomy 22 syndrome clinically is described. She is the oldest reported case with a trisomy 22 syndrome. Using QM‐ and R‐banding a 47, XX+del(22)(q13) karyotype was established. It is concluded that a region of 22q, proximal to q13, is responsible for the clinical features of the trisomy 22 syndrome.