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The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
August 1989,
Journal of medical genetics,
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
February 1990,
Journal of medical genetics,
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
January 1990,
Genetic counseling (Geneva, Switzerland),
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
March 1990,
American journal of medical genetics,
M Pembrey, and
S J Fennell, and
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L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
January 1994,
Srpski arhiv za celokupno lekarstvo,
M Pembrey, and
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C Clarke, and
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E Thompson, and
M Super
July 1992,
Archives of disease in childhood,
M Pembrey, and
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J van den Berghe, and
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D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
April 1990,
Journal of medical genetics,
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
July 1983,
Minerva pediatrica,
M Pembrey, and
S J Fennell, and
J van den Berghe, and
M Fitchett, and
D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
October 1993,
American journal of medical genetics,
M Pembrey, and
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J van den Berghe, and
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D Summers, and
L Butler, and
C Clarke, and
M Griffiths, and
E Thompson, and
M Super
November 1993,
Orthopedics,
