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Post-mortem studies on two patients with 1-2 band cytogenetic deletions: 10q26----qter and r(9)(p24q34).

作者信息

Smith A, Evans W A, Woolnough H

机构信息

Oliver Latham Laboratory, Department of Health, North Ryde, Australia.

出版信息

Ann Genet. 1989;32(4):220-4.

PMID:2610488
Abstract

Two severely retarded males with unbalanced karyotypes Case 1--(45,XY,--10,--15, + der(10)t,(10; 15) (q26; q13) and Case 2--46,XY,r(9) (p24q34) died at the ages of 24 and 38 years respectively. At post-mortem, a post-ductal coarctation of the aorta and a lump kidney were found in the first case. Brain pathology was normal in the first case and apart from a smaller size, was structurally normal in the second case.

摘要

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