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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-.

Cover of Chromosomal Variation in Man

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

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01q310

1q31
  • 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]
    t(1;3)(q31;q213); t(1;5)(q31;p14).
    Aberration: Reciprocal translocation
    Positive band
  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(1;5)(q31;p15).
    Aberration: Reciprocal translocation
    Positive band
  • Goumy C, Bonnet-Dupeyron M-N, Cherasse Y, Laurichesse H, Jaffray J-Y, Lacroute G, Geneix A, Lemery D, Vago P.: Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat. Diag. 24:249-256, 2004. [PubMed: 15065097]
    Case No. 8=46,XX,t(1;12)(q31;p12)pat.
    Aberration: Reciprocal translocation
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 9=46,XY,t(1;4)(q31;q21.2)t(3;13)(p14.1;q33).rev ish dim(13q33q33)de novo
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Double translocation
    Chromosomal Aneuploidy: 13q-
  • Larsen J W, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 28
    46,XY,t(1;4)(q31;q35)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Lungarotti M S, Falorni A, Calabro A, Passalacqua F, Dallapiccola B: De novo duplication 1q32 to 1q42: Variability of phenotypic features in partial 1q trisomies. J. Med. Genet. 17:398-402, 1980. [PMC free article: PMC1048609] [PubMed: 7218281]
    A 7 month old patient with mental retardation and malformations is reported. Karyotypes of parents were normal.&46,XY,dir dup(1)(pter -> q43::q31 -> q43::q43 -> qter).
    Aberration: Direct duplication
    Positive band
  • Martin-Lucas M A, Perez-Castillo A, Abrisqueta J A: "Familial reciprocal translocation t(1;4)(q31;p15) traced through five generations." Cytogenet. Cell Genet. 39:237, 1985. [PubMed: 4042694]
    Perez-Castillo A, Martin-Lucas M A, Abrisqueta J A: Is a gene for microcephaly located on chromosome 1? Hum. Genet. 67:230-232, 1984. [PubMed: 6745946]
    46,XX or XY,rcp(1;4)(1pter -> 1q31::4p16 -> 4pter;4qter -> 4p15::1q321 -> 1qter). Another branch of the family was earlier reported by Bourrouillou et al, in CR Soc Biol (Paris)172:359-362, 1978.&Phenotypes of IV-4 and V-7, both malformed and stillborn, were consistent with 1q32 -> 1qter trisomy and 4p16 -> 4pter monosomy.
    Aberration: Reciprocal translocation
    MIM#: 251200
    Index Terms: Microcephaly,Still born (premature)
    Positive band
  • Palmer C G, Christian J C, Merritt A D: "Partial trisomy 1 due to a ""shift"" and probable location of the Duffy (Fy) locus." AJHG 29:371-377, 1977. [PMC free article: PMC1685379] [PubMed: 879169]
    Aberration: Simple translocation
    MIM#: 110700
    Positive band
  • Sillen A, Wadelius C, Anneren G.: Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation. AJMG 80:163-168, 1998. [PubMed: 9805135]
    46,XY,dup(1)(q31q41)de novo
    The patient was 20 years old with MCA.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+
  • Steffensen D M, Chu E H Y, Speert D P, Wall P M, Meilinger K L, Kelch R P: Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5s ribosomal RNA. Hum. Genet. 36:25-33, 1977. [PubMed: 870409]
    Case KBH (5 day-old) in this report.
    46,XY,dup(1)(q31->q44).,46,XY,dup(1)(1pter->1q44::1q31->1qter).,Both parents of the proband had normal karyotypes. The authors hypothesize that the duplicated chromosome arose in one of the parents before fertilization by an unequal sister chromatid exchange during meiosis or mitosis.
    Aberration: Duplication
    Positive band
  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    47,+9; a missed abortion; and a 46,XX normal girl monitered by prenatal diagnosis was born to this couple.
    Case 1: 46,XX,t(1;7)(q31;pter).
    Aberration: Simple translocation
    Positive band
  • Utine G E, Aktas D, Alanay Y, Gucer S, Tuncbilek E, Mrasek K, Liehr T.: Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat. Diag. DOI=10.1002/pd.1788; 27:865-871, 2007. [PubMed: 17605151]
    Aberration: DU,IX
    Chromosomal Aneuploidy: 1q+
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XY,t(1;7)(q31;q31).
    Aberration: Simple translocation
    Positive band
  • Walker A P, Bocian M: Partial duplication 8q12 to q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8. AJMG 27:3-22, 1987. [PubMed: 3300332]
    A mother and her four children are reported on; proband was karyotyped because of MCA.
    Mother:46,XX,t(1;6)(q31;q25),inv ins(5;8)(p13;q12q21.2).&"Proband(III-4):46,XY,t(1;6)(q31;q25),-5,+der(5)inv ins(5;8)(5qter -> 5p13::8q12 -> 8q21.2::5p13 -> 5pter)mat."&"Patient 2(III-5):46,XX,t(1;6)(q31;q25),-5,+der(5)inv ins(5;8)(p13;q12q21.2)mat."&"Individuals III-1 and III-6:46,XY and XX,der(1)der(6)t(1;6)(q31;q25)mat,der(5)der(8)inv ins(5;8)(p13;q12q21.2)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8q+
    Positive band
  • 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,XX,t(1;8)(q31;q13).
    Aberration: Reciprocal translocation
    Positive 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 DD0103987:
    46,XY,t(1;4)(q31;q28)mat.
    Ascertained during prenatal diagnosis.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105680
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