Piecing together a picture of trisomy 8 mosaicism syndrome.
Relatively few cases of trisomy 8 mosaicism syndrome (T8mS) are documented in the medical literature. It is a rare genetic condition characterized by extreme phenotypic variability--ranging from severe congenital malformations to minute dysmorphic changes. The authors describe a case of T8mS in a man aged 33 years who presented with lumbar spine herniated nucleus propulsus. This case features some of the classic characteristics of T8mS and suggests an association between T8mS and herniated disks.
Hale
Nathan Edward
NE
Midwestern University/Arizona College of Osteopathic Medicine, Glendale, AZ 85308-6831, USA. nathan.hale@azweb.midwestern.edu
Keane
James F
JF
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000328:Adult; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D007621:Karyotyping; D017116:Low Back Pain / Q000175:diagnosis / Q000235:genetics; D008161:Lumbosacral Region; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011128:Polyradiculopathy / Q000175:diagnosis / Q000601:surgery*; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis*