RT Journal Article
SR Electronic
T1 Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 921
OP 924
DO 10.1136/jmg.29.12.921
VO 29
IS 12
A1 T Webb
A1 J Clayton-Smith
A1 X J Cheng
A1 J H Knoll
A1 M Lalande
A1 M E Pembrey
A1 S Malcolm
YR 1992
UL http://jmg.bmj.com/content/29/12/921.abstract
AB A family is described in which an inversion of chromosome 15, 15 inv(p11q13), is segregating. All family members are healthy except the proband who is a 10 year old boy with Angelman syndrome. Although the chromosomal inversion has been passed from the grandfather to both his son and his daughter with no ill effect, passage from daughter to grandson has resulted in a deletion of chromosome 15 material which is presumed to be the cause of Angelman syndrome in this boy. The probabilities of an inversion of this type being instrumental in causing the syndrome are discussed.