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Case Reports
. 1986 Feb;29(2):174-7.
doi: 10.1111/j.1399-0004.1986.tb01245.x.

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

P Bowen, H Pabst, D Berry, R Collins-Nakai, J J Hoo
Case Reports

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

P Bowen et al. Clin Genet. 1986 Feb.

Abstract

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.

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