Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome.
We report on a patient with a de novo interstitial deletion of the proximal portion of the short arm of chromosome 3 (p12----14.2). The deleted portion excludes the constitutive fragile site assigned to band 3p14. The phenotype of the patient, together with that of three previously reported cases, seems to be sufficiently characteristic to allow the delineation of a proximal 3p deletion syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002900:Chromosomes, Human, 1-3; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male