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skos:definition |
JABL: Duplication of the long arm of chromosome X with growth retardation, developmental delays, seizures, behavioral problems, gonadal dysgenesis, and symptoms of Ullrich-Turner XO syndrome, a syndrome wherein the affected patients have only 45 chromosomes producing an XO chromosome constitution, occurring with webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and other anomalies.
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