01p133

1p13.3

Publication Details

  • Batista D A S, Tuck-Muller C M, Martinez J E, Kearns W G, Pearson P L, Stetten G: A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum. Genet. 92:117-121, 1993. [PubMed: 8370575]
    46,XX,t\inv(1);3;4;9\(1qter -> 1q25::1p13.3 -> 1q25::4q26 -> 4q27:;3qter -> 3p13::1p22.1 -> 1pter;4pter -> 4q25::1p21 -> 1p13.3:: 4q27 -> 4qter;9qter -> 9p24::4q25 -> 4q26::1p21 -> 1p22.1::3p13 -> 3pter).
    Patient ascertained because of low MSAFP. Pregnancy was terminated at 22 weeks and no abnormalities were noted.
    Aberration: Complex translocation
    Index Terms: FISH,Complex translocation
    Negative band

  • Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith M A, Tommerup N, Ropers H-H, Sargan D, Kalscheuer V M.: Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Europ. J. Hum. Genet. 13:921-927, 2005. [PubMed: 15870826]
    Initial=46,XX,t(1;7)(p22;q32)de novo.,revised=46,XX,t(1;7)(p13.3;q31.3)de novo.
    The breakpoint is located in the genomic region of 107 686 151 bp on chromosome 1 and 123 365 462 bp on chromosome 7.
    Aberration: Reciprocal translocation
    Index Terms: Netrin G1 (NTNG1),Rett syndrome

  • Tabata H, Sone K, Kobayashi T, Yanagisawa T, Tamura T, Shimizu N, Kanbe Y, Tashiro M, Ono S, Kuroume T: Short arm deletion of chromosome 1: del(1)(p13.3p22.3) in a female infant with an extreme tetralogy of fallot. Clin. Genet. 39:132-135, 1991. [PubMed: 2015694]
    46,XX,del(1)(1p13.3p22.3)de novo.
    Patient died at 7 months of age of anoxia caused by closure of the patent ductus arteriosus.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 01p-
    Index Terms: Tetralogy of Fallot,Anoxia,Patent ductus arteriosus
    Negative band

  • Tonnies H, Neumann L M, Gruneberg B, Neitzel H.: Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. AJMG DOI=10.1002/ajmg.a.20225;121A:163-167, 2003. [PubMed: 12910498]
    mos47,XY,+r(1)(q10p13.3)[7]/46,XY[43].rev ish r(1)(wcp1+,D1S2746+).
    Patient was 4 3/12 years old with MCA, with a developmental level of 12 months, associated with an attention deficit disorder and autoaggressive episodes.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 1p+
    Index Terms: SMC

  • Utkus A, Sorokina I, Kucinskas V, Rothlisnerger B, Balmer D, Brecevic L, Schinzel A.: Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1). J. Med. Genet. 36:73-76, 1999. [PMC free article: PMC1762944] [PubMed: 9950373]
    Proband=46,XY,der(6),ins(6;1)(q25;p13.3p22.1)pat.,Paternal grandmother=46,XX,ins(6;1)(q25;p13.3p22.1).,Father of the proband=46,XY,der(1)der(6)(q25;p13.3p22.1)mat.
    The proband was 3 years old and had some dysmorphic features. An attempt has been made by the authors to collate data on similar case reports: Patient of Schurmann et al (1987) and cited under 01p210, Dhellemes et al (1988) and cited under 01p110, and Mohammed et al (1989) and cited under 01p212. There is an error in Table of citations. The common findings were nonspecific features such as: microcephaly, hypertelorism, sacral dimple and round face.
    The family history is remarkable with a stillbirth, spontaneous abortion, and a death at 7 months.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 1p+

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,t(1;16)(p13.3;p13.3).
    Aberration: Reciprocal translocation
    Negative band

  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD9705086:
    46,XX,t(1;7)(p13.3;p15.3).
    Case ascertained because of abnormal phenotype.
    Aberration: Reciprocal translocation