02q311

2q31.1

Publication Details

  • Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers H-H, Tommerup N, Neitzel H, Kalscheuer V M.: Breakpoints around the HOXD cluster result in various limb malformations. J. Med. Genet. 43:111-118, 2006. [PMC free article: PMC2564623] [PubMed: 15980115]
    Patient 1=46,XY,t(2;10)(q31.1;q26.3).,Patient 2=46,XX,t(2;10)(q31.1;q23.33).,Patient 3=46,XX,inv(2)(p15q31).
    Patient 1 was 1 years old and had severe brachydactyly and syndactyly, MR, hypoplasia of the cerebellum, scoliosis, and ectopic anus.,Patient 2, was 23 years old and had aplasia of the ulna, shortening of the radius, finger anomalie s, and scoliosis.,Patient 3, a newborn, had bilateral aplasia of the fibula and the radius, bilateral hypoplasia of the ulna, unossified carpal bones, and hypoplasia and dislocation of both tibiae.
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    Aberration: RT,PI
    Index Terms: HOXD

  • Stevenson D A, Bleyl S B, Maxwell T, Brothman A R, South S T.: Mandibular dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. AJMG 143A: 1053-1059, 2007. [PMC free article: PMC3243067] [PubMed: 17431905]
    46,XX,t(2;17)(q24.3;q23)dn at 600-band level.ish t(2;17)(q31.1;q24.3-25.1)dn.
    Aberration: Reciprocal translocation
    Index Terms: HOXD

  • Svensson A M, Curry C J, South S T, Whitby H, Maxwell T M, Aston E, Fisher J, Carmack C E, Scheffer A, Abu-Shamsieh A, Brothman A R.: Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. AJMG Part A: 143A: 1348-1353, 2007. [PubMed: 17506097]
    46,X,del(2)(q31.1).
    Patient was 2 years old with MCA.
    The breakpoints were located between BAC clones RP11-79C17 and RP11-451F14 and between BAC clones RP11-12N7 and RP11-11279N12. Size netween 1.207 and 3.33 Mb.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-