title: Partial trisomy 8q and partial monosomy 18p: a case report.
abstract: We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.
authors.affiliation: Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. surasak1@aol.com <surasak1@aol.com>
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: E
authors.initials: E
authors.lastname: Garrow
authors.forename: F A
authors.initials: FA
authors.lastname: Rabi
authors.forename: R
authors.initials: R
authors.lastname: Titapiwatanakun
authors.forename: K M
authors.initials: KM
authors.lastname: Kuniyoshi
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics* / Q000473:pathology; D009035:Mothers; D014314:Trisomy / Q000235:genetics* / Q000473:pathology