Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.
We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosomes 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/4q22 region reported previously detected a characteristic phenotype in 8 patients. This phenotype was present in our patients. We conclude that the deletion in the 4q21/4q22 region results in a specific clinical syndrome associated with central nervous system overgrowth that may be a result of anomalous imprinting in the 4q21/4q22 region.
Nowaczyk
M J
MJ
Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Teshima
I E
IE
Siegel-Bartelt
J
J
Clarke
J T
JT
D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D015898:Tomography Scanners, X-Ray Computed