Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.
We report on a patient with duplication of 7p15-->pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15-->pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15-->pter. The complete clinical phenotype of dup(7)(p15-->pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping.
Reish
O
O
Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
Berry
S A
SA
Dewald
G
G
King
R A
RA
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed