title: Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
abstract: The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the apparently balanced t(5;7)(p13.3;p22.2) ascertained by a 16-year-old girl with cri-du-chat syndrome and unusual skeletal features in association with an unbalanced translocation der(5) t(5;7)(p13.3;p22.2). Mapping of the chromosome breakpoints using fluorescent in situ hybridization (FISH) narrowed them to the coding sequence of ADAMTS12 on chromosome 5p13.3 and SDK1 on 7p22.2. In addition, several skeletal abnormalities classified as brachydactyly type A1B (BDA1B) were present in the proband and in both carriers of t(5;7)(p13.3;p22.2), suggesting a potential role of ADAMTS12 in the development of the BDA1B observed in this family.
authors.forename: Marta
authors.initials: M
authors.lastname: Myśliwiec
authors.forename: Barbara
authors.initials: B
authors.lastname: Panasiuk
authors.forename: Maria
authors.initials: M
authors.lastname: Dębiec-Rychter
authors.forename: Piotr Sebastian
authors.initials: PS
authors.lastname: Iwanowski
authors.forename: Urszula
authors.initials: U
authors.lastname: Łebkowska
authors.forename: Beata
authors.initials: B
authors.lastname: Nowakowska
authors.forename: Anna
authors.initials: A
authors.lastname: Marcinkowska
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Alina T
authors.initials: AT
authors.lastname: Midro
mesh_terms: D000293:Adolescent; D059327:Brachydactyly / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008684:Metatarsus / Q000002:abnormalities*; D010007:Osteochondritis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014178:Translocation, Genetic