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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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  • Bijlsma J B, de France H F, Bleeker-Wagemakers E M, Wijffels J C H M: "Duplication deficiency syndrome in familial translocation (2q-;5p+)." Humangenetik 12:110-122, 1971. [PubMed: 5568729]
    46,XY,t(2q-;5p+).&"46,XX and XY,der(2)der(5)t(2q-;5p+)pat."
    Propositus D.W. in this report.
    46,XX,-5,+der(5)t(2q-;5p+)mat.&Chromosome identification by autoradiography.
    Aberration: Simple translocation
    No band
  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 5
    46,XX,t(2;3)(q23 or q31;q27 or q29),t(5;6)(q35;p21).
    32 year old woman with history of pregnancy losses(3).
    Aberration: Reciprocal translocation
    No band
  • Buhler E M, Luchsinger U, Buhler U K, Mehes K, Stalder G R: Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias). Humangenetik 9:97-104, 1970. [PubMed: 5489000]
    A non-condensed (gap-like) region near the centromere was found.
    Aberration: Marker chromosome
    Index Terms: Hypospadias
    No band
  • Cook P J L, Lindenbaum R H, Salonen R, de la Chapelle A, Daker M G, Buckton K E, Noades J E, Tippett P: The MNSs blood groups of families with chromosome 4 rearrangements. Ann. Hum. Genet. 45:39-47, 1981. [PubMed: 7316476]
    German J: Studying human chromosomes today. Am. Sci. 58:182-201, 1970. [PubMed: 4244681]
    46,XY,t(2;4)(q;q).&"46,XY,t(2;4)(2pter -> 2q::4q -> 4qter;4pter -> 4q::2q -> 2qter). MNSs loci appear -> be in the segment between 4q28 -> 4q31."
    Aberration: Simple translocation
    No band
  • Daniel W L: A genetic and biochemical investigation of primary microcephaly. Am. J. Ment. Defic. 75:653-662, 1971. [PubMed: 5581989]
    46,XX,t(2;C)(q;q).&"46,XX,-2,+der(2)t(2;C)(q;q)mat."&"46,XX,-2,+der(2)t(2;C)(2pter -> 2q::Cq -> Cqter)mat."
    Aberration: Simple translocation
    Index Terms: Microcephaly
    No band
  • Donnenfeld A E, Zackai E H, McDonald D M, Aquino R, Emanuel B S: De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. J. Med. Genet. 24:436-439, 1987. [PMC free article: PMC1050155] [PubMed: 3612721]
    MIM#: 270400
    Chromosomal Aneuploidy: 2q+
    Index Terms: Smith-Lemli-Opitz syndrome
    No band
  • Evans M I, White B J, Kent S G, Levine M A, Levin S W, Larsen J W, Jr: Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss. AJMG 19:783-790, 1984. [PubMed: 6517101]
    46,XX,ins(2;5)(q14.2 or 21.100;q22.0q23.2 or q23.305),t(5;13)(q23.2 or q23.305;q34).
    Mother and proband balanced as above whereas the brother (as below) had a duplication of 5q22-23 bands.
    46,XY,ins(2;5)(q14.2 or q21.1;q2200-q23.2 or q23.305).
    Aberration: Direct insertion between two chromosomes
    No band
  • Ferguson-Smith M A: Inherited constriction fragility of chromosome 2. Ann. Genet. 16:29-34, 1973. [PubMed: 4352902]
    2qh is reported in three generations in a family.
    Aberration: Marker chromosome
    No band
  • Fioretti G, Pagano L, Renda S, Festa B, Rinaldi A, Celona A, Casullo C, Stabile M, Cavaliere M L, Ventruto V: Rassegna di sette casi di patologia autosomica di piu raro riscontro. Min. Ped. 32:807-814, 1980. [PubMed: 7464734]
    Aberration: Simple translocation
    No band
  • Genest P, Lachance R, Poty J, Jacob D: "Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement: case report and review." J. Med. Genet. 8:504-508, 1971. [PMC free article: PMC1469101] [PubMed: 5149534]
    Aberration: Simple translocation
    No band
  • Michels V V, Medrano C, Venne V L, Riccardi V M: Chromosome translocations in couples with multiple spontaneous abortions. AJHG 34:507-513, 1982. [PMC free article: PMC1685330] [PubMed: 7081226]
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Neu R L, Gardner L I: "Three families with abnormal inherited chromosomes: 2q+mat,t(Cp+;13q-)mat and t(3?-;5q+)pat." Ann. Genet. 15:19-23, 1972. [PubMed: 4402505]
    Case No. 1 in this report.
    No band
  • Noel B, Quack B, Mottet J, Nantois Y, Dutrillaux B: Selective endoreduplication or branched chromosome. Exp. Cell Res. 104:423-426, 1977. [PubMed: 65287]
    The malsegregation is thought to be a consequence of the fragility of this region. The site is the area where two telomeric regions of acrocentric Simian chromosomes may have fused during karyotype evolution.
    Aberration: Marker chromosome
    Index Terms: Chromosomal breakage syndromes
    No band
  • Reiss J A, Wyandt H E, Magenis R E, Lovrien E, Hecht F: "Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-)." J. Med. Genet. 9:280-286, 1972. [PMC free article: PMC1469149] [PubMed: 5079098]
    46,XY,t(2q+;14q-).&"46,XY,t(2;14)(2pter -> 2q::14q -> 14qter;14pter -> 14q::2q -> 2qter)."&"46,XY,der(2)der(14)t(2q+;14q-)mat/47,XY,der(2)der(14)t(2q+;14q-)mat,+der(14)t(2;14)mat."&See George and Franke''s report (1976) under 02q370.
    Aberration: Reciprocal translocation
    No band
  • Thoene J, Higgins J V, Krieger I, Schmickel R D, Weiss L: Genetic screening for mental retardation in Michigan. Am. J. Ment. Defic. 85:335-340, 1981. [PubMed: 7457497]
    Aberration: Simple translocation
    No band
  • Wiedemann H R, Tolksdorf M: "An uncommon malformation-retardation syndrome with ""sheep-like face"" and associated with autosomal structural aberration." Klin. Paed. 185:346-351, 1973. [PubMed: 4797673]
    Index Terms: Face ... sheep-like
    No band
  • Zhang S, Xie T, Tang Y, Zhang S, Xu Y: The prevalence of chromosome diseases in the general population of Sichuan, China. Clin. Genet. 39:81-88, 1991. [PubMed: 2015698]
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105898


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