Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation.
A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented. The baby had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears which are common to cases with partial 2q trisomy. Additional findings of aniridia and marked corneal pathology are reported.
D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007499:Iris Diseases / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy