06q161

6q16.1

Publication Details

  • Faivre L, Cormier-Daire V, Lapierre J M, Colleaux L, Jacquemont S, Genevieve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois M C, Vekemans M.: Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J. Med. Genet. 39:594-596, 2002. [PMC free article: PMC1735217] [PubMed: 12161602]
    Patient was 5 years old with obesity and dysmorphic features.
    46,XY,del(6)(q16.1q21)de novo.,Molecular marker studies showed that the deletion was paternal in origin and SIM1 gene was deleted.
    Aberration: Interstitial deletion
    MIM#: 603128
    Chromosomal Aneuploidy: 6q-
    Index Terms: Prader-Willi-like phenotype, SIM1

  • Spreiz A, Muller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.: Phenotypic variability of a deletion and duplication 6q16.1->q21 due to a paternal balanced ins(7;6)(p15;q16.1q21). AJMG Part A: 152A: 2762-2767, 2010. [PubMed: 20954245]
    Father II-10=46,XY,ins(7;6)(p15;q16.1q21).,Daughter III-1 and son III-4)=,46,X(XorY),der(7)ins(7;6)(p15;q16q21)pat.,Daughter III-3=46,XX,der(6)ins(7;6)(p15;q16q21)pat.
    Inserted segment size11.3 Mb.,Breakpoints between rs4370337 and rs12660854 and rs12110990 and rs4946730 on 6q16.1 and 6q21, respectively, as well as within BAC clone RP11-182J2 on 7p15.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 6q-;6q+

  • Varela M C, Simoes-Sato A Y, Kim C A, Bertola D R, De Castro C I E, Koiffmann C P.: A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2005.12.002; 49: 298-305, 2006. [PubMed: 16829351]
    46,XX,del(6)(q16.1q21)de novo.
    The patient was 10 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: SIM1

  • Zherebtsov M M, Klein R T, Aviv H, Toruner G A, Hanna N, Brooks S K.: Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. Clin. Dysmorphol. 16: 135-140, 2007. [PubMed: 17551325]
    46,XX,del(6)(q16.1q22.3).
    The 15 month old had several dysmorphic features and delayed developmental milestones.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-