Primary amenorrhea in a black female with duplication and inversion of the secondary constriction regions of chromosome 9.
A 36-yr-old black female presented with primary amenorrhea. The chromosomal constitution based on QFQ (Q bands by fluorescence using quinacrine) RFA (R bands by fluorescence using acridine orange), GTG (G band by Giemsa using trypsin), and CBG (C band by Giemsa using barium hydroxide) techniques was 46, XX, duplicated (9; q12), inverted (9; p12q12.1) in lymphocytes and skin fibroblasts. Both sex chromosomes were normal. Buccal smear revealed 22% Barr bodies. Duplication and inversion of secondary constriction regions of chromosome 9 may possibly be associated with abnormal clinical features.
D000328:Adult; D000568:Amenorrhea / Q000097:blood / Q000235:genetics*; D000728:Androgens / Q000097:blood; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D011388:Prolactin / Q000097:blood; D013256:Steroids / Q000097:blood; D013974:Thyroxine / Q000097:blood
D000728:Androgens; D013256:Steroids; D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013974:Thyroxine