title: Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities.
abstract: A case of prenatal diagnosis of de novo mosaic deletion of the long arm of chromosome 13 (del(13)(q13.3)) is presented. Routine scanning in a 27-year-old primigravida at 25 weeks' gestation showed fetal bilateral hydronephrosis. Detailed anomaly scanning in our tertiary referral center further demonstrated posterior meningoencephalocele, sloping forehead, microcephaly, syndactyly and hypoplastic thumbs. Both genetic amniocentesis and cordocentesis revealed a mosaic karyotype, 46,XY/46,XY,del(13)(q13.3). Sonographic findings were confirmed by postmortem autopsy and additional abnormalities such as agenesis of corpus callosum, hypoplastic cerebellum and macroglossia were diagnosed. Detailed sonography in this case thus revealed multiple malformations that prompted fetal karyotyping at 25 weeks' gestation.
authors.affiliation: Department of Obstetrics and Gynecology, Institute of Medical Biology and Human Genetics, University Hospital Innsbruck, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Widschwendter
authors.forename: K
authors.initials: K
authors.lastname: Riha
authors.forename: H C
authors.initials: HC
authors.lastname: Duba
authors.forename: A
authors.initials: A
authors.lastname: Kreczy
authors.forename: C
authors.initials: C
authors.lastname: Marth
authors.forename: P
authors.initials: P
authors.lastname: Schwärzler
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000000981:diagnostic imaging / Q000209:etiology; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D016216:Ultrasonography, Prenatal