title: Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.
abstract: A 17-month-old girl with a partial trisomy of distal 8q derived from her mother, who has a mosaic 8q23.3----q24.13 deletion, was studied. Both showed a relatively mild phenotype of trichorhinophalangeal syndrome I. The karyotype of the proposita was designated as: 46,XX,-8,+der(8),inv ins(8;8)(p23.1;q24.13q23.3)mat. Her phenotype was considered similar to that of her mother despite the trisomies of distal 8q. She seems to be the first example of a partial trisomy of distal 8q derived from a parent with an interstitial deletion of a distal 8q segment and trichorhinophalangeal syndrome I.
authors.affiliation: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: K
authors.initials: K
authors.lastname: Hirayama
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy