Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.
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D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D010329:Patella / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D013577:Syndrome; D016615:Telomere / Q000235:genetics*