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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Aberration: Inversion pericentric
    Negative band
  • Debeer P, Schoenmakers E F P M, Thoelen R, Fryns J P, Van de Ven W J M.: Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3''/4 synpolydactyly. Cytogenet. Cell Genet. 81:229-234, 1998. [PubMed: 9730609]
    Debeer P, Schoenmakers E F P M, Twal W O, Argraves W S, De Smet L, Fryns J-P, Van de Ven W J M.: The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J. Med. Genet. 39:98-104, 2002. [PMC free article: PMC1735038] [PubMed: 11836357]
    The breakpoint on chromosome 12 is between markers D12S1596 and D12S1034; and on 22 between D22158 and N73F4; however, in the paper it is misprinted, sometimes, as 12p11.3.
    A three generation family is reported: individuals II-2 (father), III-1 (daughter), and III-2 (son).
    46,XX and XY,t(12;22)(p11.2;q13.3).
    The phenotype and the balanced translocation is cosegregating.
    Aberration: Reciprocal translocation
    MIM#: 186000
    Index Terms: Synpolydactyly complex type
  • Fryns J P, Kleczkowska A, Van den Berghe H: Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature. Ann. Genet. 33:43-45, 1990. [PubMed: 2195980]
    Patient A.T.
    46,XX,del(12)(pter -> p13.1:::p11.2 -> cen -> qter)de novo.
    The newborn had stigmata of Turner syndrome, severe psychomotor retardation, facial dysmorphism, marked hypoplasia of the external genitalia and right heart hypoplasia.
    Study of LDH activity showed a marked decrease of LDHB activity contrasting with an elevated LDHA.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 12p-
    Negative band
  • Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K-I, Dai H, Niikawa N, Cai F, Xia J.: A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2. AJMG DOI=10.1002/ajmg.a.31077; 140A:238-244, 2006. [PubMed: 16411213]
    Father-GTG=46,XY,inv(12)(p11.2q14.1).,46,XY,inv(12)(pter->p11.2::q14.1->p11.2::12p12.3->12p11.2::q14.1->qter)de novo
    The patient was 34 years old with MR.
    Aberration: PI,IN
    Chromosomal Aneuploidy: 12p+
  • Voiculescu I, Barbi G, Wolff G, Steinbach P, Back E, Schempp W: Familial pericentric inversion of chromosome 12. Hum. Genet. 72:320-322, 1986. [PubMed: 3699821]
    Two families from the same region were studied; 23/29 members screened were carriers.
    46,XX and XY,inv(12)(p112q13).
    Aberration: Inversion pericentric
    Negative band
  • Zumkeller W, Volleth M, Muschke P, Tonnies H, Heller A, Liehr T, Wieacker P, Stumm M.: Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. AJMG DOI=10.1002/ajmg.a.30125; 129A:261-264, 2004. [PubMed: 15326625]
    46,XX,der(12).ish dup(12)(pter->q24.3::p11.2->pter).
    Patient was evaluated at the age of 7 years because of MR and craniofacial dysmorphy.
    Aberration: Duplication
    Chromosomal Aneuploidy: 12p+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107033


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