[45,X/46,SYq dic-Sexchromosome mosaic].
This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.
D000328:Adult; D001773:Blood Cells; D002478:Cells, Cultured; D002648:Child; D005260:Female; D005347:Fibroblasts; D005453:Fluorescence; D006197:Hair; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D007621:Karyotyping; D008938:Mitosis; D009030:Mosaicism; D009061:Mouth Mucosa; D009765:Obesity / Q000175:diagnosis; D010641:Phenotype; D011796:Quinacrine; D012728:Sex Chromatin / Q000032:analysis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D012730:Sex Chromosomes / Q000032:analysis
D011796:Quinacrine
45,X/46,XYq dic-Geschlechtschromosomenmosaik