title: [Inversion of chromosome 10 in a fetus with osteochondrodysplasia].
abstract: The case of thanatophoric dysplasia of the fetus was described. The disease was recognized by ultrasound. Karyotyping was successful after fetal blood sampling under continuous ultrasound guidance. An inversion of chromosome 10 was detected in the affected fetus. The confirmation of the thanatophoric dysplasia was done after termination of the pregnancy. The same inversion was detected in unaffected mother. Prenatal diagnosis was made in the next pregnancy. The result was an unaffected newborn delivered on term.
authors.affiliation: Zakładu Genetyki Medycznej Instytutu Endokrynologii Akademii Medycznej w Lodzi.
authors.forename: B
authors.initials: B
authors.lastname: Truszczak
authors.forename: G
authors.initials: G
authors.lastname: Rubersz-Adamska
authors.forename: W
authors.initials: W
authors.lastname: Gontarek
authors.forename: J
authors.initials: J
authors.lastname: Korczyński
authors.forename: I
authors.initials: I
authors.lastname: Miastkowska-Filipiak
authors.forename: T
authors.initials: T
authors.lastname: Nowicki
authors.forename: J
authors.initials: J
authors.lastname: Suzin
authors.forename: B
authors.initials: B
authors.lastname: Kałuzewski
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
vernacular_title: Inwersja chromosomu 10 u płodu z osteochondrodyeplazja.