Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
Juyal
R C
RC
Finucane
B
B
Shaffer
L G
LG
Lupski
J R
JR
Greenberg
F
F
Scott
C I
CI
Baldini
A
A
Patel
P I
PI
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002461:Cell Line, Transformed; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000648:ultrastructure*; D003360:Cosmids; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D013577:Syndrome