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Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)
Author(s) -
Fahsold R.,
Rott H.D.,
Claussen U.,
Schmalenberger B.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03103.x
Subject(s) - tuberous sclerosis , chromosomal translocation , abnormality , chromosomal abnormality , karyotype , epilepsy , locus (genetics) , medicine , dermatology , genetics , pathology , chromosome , biology , psychiatry , gene
We report on an 8‐year‐old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X‐ray CT findings of the skull characteristic for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3; 12) (p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non‐random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account.