Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.
A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973-1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR-1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies.
Albright
S G
SG
Department of Pediatrics, University of North Carolina at Chapel Hill 27599.
Lachiewicz
A M
AM
Tarleton
J C
JC
Rao
K W
KW
Schwartz
C E
CE
Richie
R
R
Tennison
M B
MB
Aylsworth
A S
AS
D002873:Chromosome Fragility; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype