Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.
We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Dieker regions of chromosome 17p. This girl showed mild developmental delay with subtle facial and other minor abnormalities including single palmar creases, generalised joint laxity, and a scoliosis.
Morrison
P J
PJ
Centre for Medical Genetics, City Hospital, Nottingham, United Kingdom.
Smith
N M
NM
Martin
K E
KE
Young
I D
ID
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002648:Child; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D014314:Trisomy