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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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03p000

3p00
  • Brauch H, Johnson B, Hovis J, Yano T, Gazdar A, Pettengill O S, Graziano S, Sorenson G D, Poiesz B J, Minna J, Linehan M, Zbar B: Molecular analysis of the short arm of chromosome 3 in small-cell and non-small-cell carcinoma of the lung. NEJM 317:1109-1113, 1987. [PubMed: 2821398]
    A loss of DNA segment on 3p was found in 13 samples of small-cell carcinoma.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
    No band
  • Cohen M M, Davidson R G: An inherited pericentric chromosomal inversion (46,inv3p-q+) associated with skeletal anomalies. J. Ped. 79:456-462, 1971. [PubMed: 5567968]
    46,XX,inv(3)(pq).&46,XX,der(3)inv(3)(pq)mat.
    Aberration: Inversion pericentric
    No band
  • del Amo A, Gullon A: "Familial translocation t(3p+;8q-) studied by banding with Giemsa staining." Humangenetik 15:14-19, 1972. [PubMed: 4114798]
    46,XX,t(3p+;8q-).,46,XX and XY,der(3)der(8)t(3p+;8q-)mat.
    Case MA (291033) in this report.
    46,XY,der(3)der(8)t(3p+;8q-).
    Aberration: Simple translocation
    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]
    46,XX and XY,t(3p+;6p-).,46,XY,-3,+der(3)t(3qter->3p::6p->6pter)mat and pat.
    Aberration: Simple translocation
    No band
  • Hsia Y E, Appadorai V, Breg W R, Howard R O: Chromosomal abnormality (46,XX,3p+) in a case of the Meckel syndrome. BD-OAS X(No. 8):19-25, 1974. [PubMed: 4142400]
    Case K.P. in this report.
    46,XX,t(3p+;?).
    Aberration: Simple translocation
    MIM#: 249000
    Index Terms: Meckel syndrome
    No band
  • Lakshminarayana P, Nallasivam P: Cornelia de Lange syndrome with ring chromosome 3. J. Med. Genet. 27:405-406, 1990. [PMC free article: PMC1017144] [PubMed: 2359108]
    Wilson G N: Cornelia de Lange syndrome with ring chromosome 3. J. Med. Genet. 28:143, 1991. [PMC free article: PMC1016788] [PubMed: 2002489]
    46,XY,r(3).
    The young infant showed some of the characteristics of the syndrome of Cornelia de Lange.
    Interesting discussion about the problem of Cornelia de Lange syndrome and 3q aneuploidy phenotype overlap.
    Aberration: Ring chromosome
    MIM#: 122470
    Index Terms: Cornelia de Lange syndrome
    No band
  • Lejeune J: Scientific impact of the study of fine structure of chromatids. Nobel Symposium 23:16-24, 1973.
    46,X?,ins(7;3)(q3;p14p25)ins(7q+;3p-).
    Aberration: Direct insertion between two chromosomes
    No band
  • Lurie I W: Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes. AJMG 47:410-416, 1993. [PubMed: 8135290]
    In this review paper it was pointed out that polydactyly was found in patients with "pure" del(3p) more frequently (11/23) than in patients where these deletions were associated with different partial trisomies (2/28).
    Chromosomal Aneuploidy: 3p-
    Index Terms: Polydactyly
    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]
    46,XX,t(3p;13q).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Picciano D J, Berlin C M, Davenport S L H, Jacobson C B: Human ring chromosomes: a report of five cases. Ann. Genet. 15:241-247, 1972. [PubMed: 4539482]
    Case No. 1 in this report.
    46,XY/46,XY,r(3).
    Aberration: Ring chromosome
    No band
  • Sachdeva S, Smith G F, Justice P: An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12. J. Med. Genet. 11:303-304, 1974. [PMC free article: PMC1013150] [PubMed: 4139264]
    46,XX and XY,rcp(3p-;12q+).&"46,XX and XY,der(3)der(12)rcp(3p-;12q+)mat."&"46,(XX and) XY,-12,+der(12)rcp(3p-;12q+)mat."
    Aberration: Reciprocal translocation
    No band
  • Stenchever M A, Parks K J, Daines T L, Allen M A, Stenchever M R: Cytogenetics of habitual abortion and other reproductive wastage. Am. J. Obst. Gynecol. 127:143-150, 1977. [PubMed: 556663]
    46,XX,t(3p-;8q+).&Karyotyping data are not entirely clear in this report.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106984
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