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Post mortem findings in a patient with 46,XX,fra(2)(q13)
Author(s) -
SMITH A.,
SULLIVAN J.,
EVANS W. A.
Publication year - 1989
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1989.tb01454.x
Subject(s) - ataxia , girl , abnormality , chromosomal fragile site , peripheral blood , chromosome , long arm , pediatrics , medicine , psychology , genetics , psychiatry , biology , developmental psychology , gene
. A severely mentally retarded girl who suffered from grand mal seizures, myoclonic jerking and ataxia died at 18 years of age. Chromosome studies, before and after death revealed a fragile site on chromosome 2q13, the expression of which was greater in peripheral blood than in fibroblasts on two occasions. Post mortem findings did not reveal any abnormality which could be attributed to this fragile site.