Mosaic isochromosome 8p.
Findings in a patient with mosaic isochromosome 8p are compared with those of previously reported cases. There were no distinguishing findings on physical examination; all had cognitive delays, especially in speech and language development.
Tilstra
D J
DJ
Department of Medicine, University of Washington School of Medicine, Seattle.
Grove
M
M
Spencer
A C
AC
Norwood
T H
TH
Pagon
R A
RA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism; D012272:Ribs / Q000002:abnormalities; D013064:Speech Disorders / Q000235:genetics