Fig. 2From: A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature reviewFacial dysmorphisms and brachydactyly in the mother with a 6.34cMb duplication (arr[hg38]20p13p12.2 (4,391,799–10,729,546) × 3). A, B midface hypoplasia, depressed nasal root, bulbous nasal tip. C Brachydactyly and nail hypoplasia on the distal phalange of left thumb. D Nail dysplasia on the distal phalange of the 5th right toe. E Overview of the comparison of both handsBack to article page