title: Exclusively paternal X chromosomes in a girl with short stature.
abstract: A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.
authors.affiliation: Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
authors.forename: A A
authors.initials: AA
authors.lastname: Schinzel
authors.forename: W P
authors.initials: WP
authors.lastname: Robinson
authors.forename: F
authors.initials: F
authors.lastname: Binkert
authors.forename: T
authors.initials: T
authors.lastname: Torresani
authors.forename: E A
authors.initials: EA
authors.lastname: Werder
mesh_terms: D000293:Adolescent; D005220:Fathers; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D010375:Pedigree; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome