title: Holoprosencephaly in a newborn girl with 46,XX,i(18q).
abstract: We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.
authors.affiliation: Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141.
authors.forename: N B
authors.initials: NB
authors.lastname: Spinner
authors.forename: D L
authors.initials: DL
authors.lastname: Eunpu
authors.forename: J R
authors.initials: JR
authors.lastname: Austria
authors.forename: P
authors.initials: P
authors.lastname: Mamunes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000648:ultrastructure*; D003241:Consanguinity; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn