49,XXXXX syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265497

JABL: Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.,NCI: A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes.

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