X pentasomy: a case and review.
A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.
D000782:Aneuploidy; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D014960:X Chromosome
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone