Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.
A proximal 15q deletion, del(15) (q11:q13), was detected in a child with Angelman syndrome by cytogenetic analysis of peripheral lymphocytes. The chromosomes of both parents appeared normal. Flow karyotype analysis carried out on lymphoblastoid cell lines derived from the child and her parents confirmed the presence of a de novo 15 deletion. The estimated size of the deleted segment ranged from 6.1-9.5% of chromosome 15 (approximately 6-9.3 million base pairs). The parental origin of the deleted chromosome could not be resolved by flow cytometry, but cytogenetic evidence suggested that it was derived from the smaller chromosome 15 homologue in the mother.
Duncan Guthrie Institute of Medical Genetics, Glasgow, UK.
A
A
Cooke
J L
JL
Tolmie
F J
FJ
Glencross
E
E
Boyd
M M
MM
Clarke
R
R
Day
J B
JB
Stephenson
J M
JM
Connor
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005434:Flow Cytometry; D005453:Fluorescence; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009468:Neuromuscular Diseases / Q000235:genetics; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome