Post-mortem studies on two patients with 1-2 band cytogenetic deletions: 10q26----qter and r(9)(p24q34).
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.
Smith
A
A
Oliver Latham Laboratory, Department of Health, North Ryde, Australia.
Evans
W A
WA
Woolnough
H
H
D000328:Adult; D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D002899:Chromosomes, Human, Pair 9; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D008297:Male; D011627:Puberty; D012303:Ring Chromosomes