title: Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).
abstract: Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.
authors.affiliation: Obstetrics and Gynecology, Prenatal Diagnosis and Therapy, University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. markus.hengstschlaeger@akh-wien.ac.at
authors.forename: M
authors.initials: M
authors.lastname: Hengstschläger
authors.forename: C
authors.initials: C
authors.lastname: Mittermayer
authors.forename: A R
authors.initials: AR
authors.lastname: Prusa
authors.forename: R
authors.initials: R
authors.lastname: Drahonsky
authors.forename: C
authors.initials: C
authors.lastname: Repa
authors.forename: J
authors.initials: J
authors.lastname: Deutinger
authors.forename: G
authors.initials: G
authors.lastname: Bernaschek
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D000028:Abortion, Induced; D000328:Adult; D015193:Chorionic Villi Sampling; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography