Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult