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Structural aberrations of the long arm of chromosome no. 22: Report of a family with translocation t(11;22) (q25;q11) *
Author(s) -
Fu Weining,
Borgaonkar Digamber S.,
Ladewig Peter P.,
Weaver Jane,
Pomerance Herbert H.
Publication year - 1976
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.1399-0004.1976.tb00057.x
Subject(s) - chromosomal translocation , genetics , biology , chromosome , long arm , chromosome 22 , chromosome 21 , philadelphia chromosome , breakpoint , gene
A chromosomal translocation t(11;22) (q25;q11) is described in a family. Four members, in two generations, had the same translocation but showed phenotypic variation. Case reports of chromosome aberrations involving the long arm of chromosome 22 associated with and without chronic myeloid leukemia (CML) are reviewed. It appears that the distal segment of the long arm of chromosome 22 is either translocated or deleted, resulting in congenital anomalies, presumably due to chromosome imbalance. In other instances, a specific breakpoint on 22q results in the origin of Philadelphia chromosome (Ph 1 ) associated with CML.