title: Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2.
abstract: We present a case of partial duplication of the short arm of chromosome 2 (karyotype 46,XX, dup [2p21-2p25]) in a newborn girl. The infant was born at 41 weeks of gestation and died approximately 3 hours after birth. At autopsy the characteristic dysmorphic features (hypertelorism, high, prominent forehead, micrognathia and low-set, malformed ears) and numerous other congenital malformations were observed. Bilateral microcornea with opacities was noted. Histopathological examination of the eyes showed dysgenesis of Bowman's membrane, with glycosaminoglycan deposition and a series of structural anomalies that form part of the anterior segment mesenchymal dysgenesis (ASMD) complex. To our knowledge this is the first case of partial duplication of the short arm of chromosome 2 in which the ocular histopathological features have been studied. Our case provides a further example of the association of ASMD with a chromosomal abnormality.
authors.affiliation: Department of Pathology, St. Joseph's Health Centre, London, Ont.
authors.forename: J G
authors.initials: JG
authors.lastname: Heathcote
authors.forename: J
authors.initials: J
authors.lastname: Sholdice
authors.forename: J C
authors.initials: JC
authors.lastname: Walton
authors.forename: N R
authors.initials: NR
authors.lastname: Willis
authors.forename: F R
authors.initials: FR
authors.lastname: Sergovich
mesh_terms: D000015:Abnormalities, Multiple; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D005810:Multigene Family / Q000235:genetics*