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Down's syndrome and fragile‐X syndrome in a single patient
Author(s) -
COLLACOTT R. A.,
DUCKETT D. P.,
MATHEWS D.,
WARRINGTON J. S.,
YOUNG I. D.
Publication year - 1990
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1990.tb01518.x
Subject(s) - fragile x syndrome , karyotype , down syndrome , fragile x , pediatrics , phenotype , psychology , medicine , psychiatry , genetics , biology , chromosome , gene
. 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 fragilc‐X syndrome. The authors believe only one other similar case has been described.