Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family.
Molecular and cytogenetic studies in Angelman syndrome have demonstrated that the condition is genetically heterogeneous with a recurrence risk in certain families which may be as high as 50%. In an attempt to identify such families, cytogenetic polymorphisms of chromosome 15 have been studied in both affected and unaffected siblings of Angelman syndrome patients. The results suggest that in those cases with a cytogenetically visible 15q11q13 deletion where the recurrence risk is low, normal siblings inherit either maternal chromosome 15 homologue with impunity. By contrast, in cases where the proband does not demonstrate a cytogenetic 15q11q13 deletion, unaffected siblings tend to inherit the alternative homologue to that found in their affected siblings. These findings may have importance for genetic counseling.
Webb
T
T
Department of Clinical Genetics, University of Birmingham.
Malcolm
S
S
Pembrey
M E
ME
Clayton-Smith
J
J
D017204:Angelman Syndrome / Q000235:genetics* / Q000517:prevention & control; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005220:Fathers; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000517:prevention & control; D012307:Risk Factors