Exclusively paternal X chromosomes in a girl with short stature.
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.
Schinzel
A A
AA
Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
Robinson
W P
WP
Binkert
F
F
Torresani
T
T
Werder
E A
EA
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