title: Down's syndrome and fragile-X syndrome in a single patient.
abstract: A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragile-X syndrome. The authors believe only one other similar case has been described.
authors: Frith Hospital, Leicester, England.
authors: R A
authors: RA
authors: Collacott
authors: D P
authors: DP
authors: Duckett
authors: D
authors: D
authors: Mathews
authors: J S
authors: JS
authors: Warrington
authors: I D
authors: ID
authors: Young
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics / Q000523:psychology; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics / Q000523:psychology; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations