Down's syndrome and fragile-X syndrome in a single patient.
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.
Collacott
R A
RA
Frith Hospital, Leicester, England.
Duckett
D P
DP
Mathews
D
D
Warrington
J S
JS
Young
I D
ID
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