title: Prenatal detection of cyclopia associated with interstitial deletion of 2p.
abstract: We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.
authors.affiliation: Genetics Institute, Pasadena, California 91105.
authors.forename: H O
authors.initials: HO
authors.lastname: Grundy
authors.forename: P
authors.initials: P
authors.lastname: Niemeyer
authors.forename: M K
authors.initials: MK
authors.lastname: Rupani
authors.forename: V F
authors.initials: VF
authors.lastname: Ward
authors.forename: E R
authors.initials: ER
authors.lastname: Wassman
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005313:Fetal Death; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy