18q-mosaicism associated with Rett syndrome phenotype.
Rett syndrome consists of a characteristic progressive encephalopathy in females. The cause of this syndrome is unknown. We present a patient with 18q-mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet clinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome.
Gordon
K
K
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Siu
V M
VM
Sergovich
F
F
Jung
J
J
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome