title: Pericentric inversion of chromosome 13: familial study and review of the literature.
abstract: A family is described in which a pericentric inversion of chromosome 13 (13(p11 q22] was discovered after amniocentesis was performed in a patient with a previous stillborn child with multiple congenital abnormalities, and one surviving Down syndrome offspring with the maternal inversion and an additional trisomy 21. No association between pericentric inversion of chromosome 13 and other chromosomal abnormalities was found in the literature. This study discuss the possible involvement of this type of inversion in the occurrence of chromosomal and phenotypic alterations in the carrier offspring, as well as its role in genetic counseling and in the indication of prenatal diagnosis.
authors.affiliation: Laboratorio de Citogénetica, Facultad de Medicina, Sevilla, España.
authors.forename: C
authors.initials: C
authors.lastname: Fernández-Novoa
authors.forename: T
authors.initials: T
authors.lastname: Vargas
authors.forename: J M
authors.initials: JM
authors.lastname: Fernández-Ortega
authors.forename: V
authors.initials: V
authors.lastname: Gonzalez
authors.forename: J
authors.initials: J
authors.lastname: Duenas
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002882:Chromosomes, Human, Pair 13; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis