Secondary trisomy or mosaic "tetrasomy" 8p.
We report on two patients with mosaic tetrasomy of 8p[46,XY/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype +i(8p) is suggested but not yet established. The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.
Robinow
M
M
Department of Pediatrics, Wright State University School of Medicine, Dayton, Ohio.
Haney
N
N
Chen
H
H
Sorauf
T
T
Van Dyke
D L
DL
Babu
V R
VR
Powell
S
S
Maliszewski
W
W
Guerin
S
S
Landers
J W
JW
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy