45,X/46,X dic (Y) mosaicism in a phenotypic male.
Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.
Batstone
P J
PJ
Department of Pathology, Ninewells Hospital and Medical School, Dundee.
Faed
M J
MJ
Jung
R T
RT
Gosden
J
J
D000293:Adolescent; D005260:Female; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D009634:Noonan Syndrome / Q000188:drug therapy* / Q000235:genetics; D010641:Phenotype; D011994:Recombinant Proteins / Q000627:therapeutic use; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome
D011994:Recombinant Proteins; D013006:Growth Hormone