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. (26th November 2014)

• Record Type: Journal Article
• Authors: Myśliwiec, Marta; Panasiuk, Barbara; Dębiec‐Rychter, Maria; Iwanowski, Piotr Sebastian; Łebkowska, Urszula; Nowakowska, Beata; Marcinkowska, Anna; Stankiewicz, Pawel; Midro, Alina T.
• Is Part Of: American journal of medical genetics. Volume 167:Number 2(2015:Feb.)
• Page Start: 445
• Page End: 449
• Publication Date: 2014-11-26
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36874
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36874-sec-0001" sec-type="section"> <p>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 <italic>ADAMTS12</italic> on chromosome 5p13.3 and <italic>SDK1</italic> 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 <italic>ADAMTS12</italic> in the development of the BDA1B observed in this family. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>