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PMID: 2610488 Published · ppublish English Case Reports Journal Article

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

Annales de genetique ·Vol. 32 ·No. 4 ·1989-00-00 ·Pages 220-4

Smith A, Evans WA, Woolnough H

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.

MeSH Terms
Adult Chromosome Aberrations/pathology Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 9 Epilepsy/genetics Humans Intellectual Disability/genetics Kidney/abnormalities Male Puberty Ring Chromosomes
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Smith A
Oliver Latham Laboratory, Department of Health, North Ryde, Australia.
Evans W A
Woolnough H
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1989-00-00
Pages
220-4
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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