title: Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter.
abstract: Complex chromosomal rearrangements, defined as exchanges between three or more chromosomes, are very rare aberrations in human chromosomal pathology. We present a case of a complex, apparently balanced maternal chromosome rearrangement involving five different chromosomes (1, 4, 10, 12 and 20) and six breakpoints ascertained through a deletion of the short arm of chromosome 4 [del(4)(p14p15)] detected in a mother's affected 2-year old daughter.
authors.affiliation: Genetics Department, Medical University, Wroclaw, Poland.
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Izabela
authors.initials: I
authors.lastname: Laczmanska
authors.forename: Maria
authors.initials: M
authors.lastname: Sasiadek
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002877:Chromosomes, Human / Q000235:genetics*; D005260:Female; D006801:Humans