title: Fetal anomalies associated with an inversion duplication 13 chromosome.
abstract: We report the cytogenetics and pathology of a fetus with holoprosencephaly associated with an inversion duplication 13 chromosome. The pathology is compared with that found in cases of partial duplication (trisomy) and deficiency (monosomy) of chromosome 13 described in the literature. To our knowledge, this is the first time holoprosencephaly has been associated with this particular inversion duplication 13 chromosome. Careful pathology and complete chromosomal studies proved useful in counseling this couple.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: A G
authors.initials: AG
authors.lastname: Rijhsinghani
authors.forename: R H
authors.initials: RH
authors.lastname: Hruban
authors.forename: G
authors.initials: G
authors.lastname: Stetten
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography