Mosaic tetrasomy 8p.
We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p).
Newton
D
D
Department of Pediatrics, ECU School of Medicine, Greenville, NC 27858-4354.
Hammond
L
L
Wiley
J
J
Kushnick
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006333:Heart Failure / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000235:genetics; D013131:Spine / Q000002:abnormalities