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Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement
Author(s) -
Bowen Peter,
Pabst Henry,
Berry David,
CollinsNakai Ruth,
Hoo Joe J.
Publication year - 1986
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.1399-0004.1986.tb01245.x
Subject(s) - chromosome , genetics , chromosome 22 , chromosomal translocation , biology , digeorge syndrome , chromosomal rearrangement , long arm , chromosome 18 , sequence (biology) , chromosome 15 , karyotype , gene
The finding of an unbalanced t(18;22)pat chromosome rearrangement in a boy with multiple anomalies including apparent absence of the thymus is described. The observation is of interest because of the reported association of chromosome 22 rearrangements with the DiGeorge sequence. In contrast to previous reports of this association, the deletion involving chromosome 22 is confined to the short arm.