title: Secondary trisomy or mosaic "tetrasomy" 8p.
abstract: 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.
authors.affiliation: Department of Pediatrics, Wright State University School of Medicine, Dayton, Ohio.
authors.forename: M
authors.initials: M
authors.lastname: Robinow
authors.forename: N
authors.initials: N
authors.lastname: Haney
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: T
authors.initials: T
authors.lastname: Sorauf
authors.forename: D L
authors.initials: DL
authors.lastname: Van Dyke
authors.forename: V R
authors.initials: VR
authors.lastname: Babu
authors.forename: S
authors.initials: S
authors.lastname: Powell
authors.forename: W
authors.initials: W
authors.lastname: Maliszewski
authors.forename: S
authors.initials: S
authors.lastname: Guerin
authors.forename: J W
authors.initials: JW
authors.lastname: Landers
mesh_terms: 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