Marfan's syndrome with 47,XXX genotype and possible immunologic abnormality.
A 2-year-old girl with Marfan's syndrome also had recurrent episodes of upper respiratory infection, otitis media, tonsillitis, and asthma. Chromosomal study revealed the karyotype 47,XXX. Immunologic evaluation showed lack of delayed hypersensitivity skin test response despite previous exposure. The coincidence of Marfan's syndrome and either XXX or immunologic dysfunction has not been reported previously. This case clearly illustrates that more than one abnormality may occur in a single patient.
D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000209:etiology; D008382:Marfan Syndrome / Q000235:genetics* / Q000276:immunology; D012729:Sex Chromosome Aberrations / Q000150:complications*; D013601:T-Lymphocytes / Q000276:immunology