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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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03p140

3p14
  • Barbi G, Steinbach P, Vogel W: Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum. Genet. 68:290-294, 1984. [PubMed: 6239815]
    Aberration: Fragile sites
    Positive band
  • Barrios L, Miro R, Caballin M R, Vayreda J, Subias A, Egozcue J: Constitutional del(3)(p14-p21) in a patient with bladder carcinoma. Cancer Genet. Cytogenet. 21:171-173, 1986. [PubMed: 3948145]
    Patient was 68 years old.
    46,XY,del(3)(p14p21).
    Aberration: Interstitial deletion
    Positive band
  • Betz A, Trudeau C, de Grouchy J: Heterozygosity and homozygosity for a pericentric inversion of the human 3 chromosome. Ann. Genet. 17:77-80, 1974. [PubMed: 4547944]
    46,XX and XY,inv(3)(p14q24).&46,XX and XY,inv(3)(pter -> p14::q24 -> p14::q24 -> qter).&46,XX and XY,der(3)inv(3)(p14q24)mat and pat.&46,XX,der(3)inv(3)(p14q24)mat,der(3)inv(3)(p14q24)pat.
    Aberration: Inversion pericentric
    Positive band
  • 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(3;7)(p14;q36); t(3;22)(p14;q13); inv(3)(p14q13).
    Aberration: PI,RT
    Positive band
  • Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    46,XX,t(3;7)(p14;p22).&"46,XX,der(3)der(7)t(3;7)(p14;p22)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Daniel A, Ekblom L, Phillips S: Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false-negative results with the fragiles(X). AJMG 18:483-491, 1984. [PubMed: 6476008]
    Aberration: Fragile sites
    Positive band
  • Efron D, Delatycki M B, de Silva M G, Langbein A, Slaghuis W, Larson A, Dahl H-H M, Forrest S M.: A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype. J. Med. Genet. 40:e15, 2003. [PMC free article: PMC1735358] [PubMed: 12566533]
    46,N inv(3)(p14q21).
    The proband was a child, with moderate intellectual disability as well as severe conduct disturbance. Other 8 members of the family were found to have developmental-behavioural problems.
    Aberration: Inversion pericentric
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points in structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K66-201-69 in this report.
    46,XY,inv(3)(p14q27).&46,XY,inv(3)(pter -> p14::q27 -> p14::q27 -> qter).
    Aberration: Inversion pericentric
    Positive band
  • Kadotani T, Watanabe Y, Kurosaki N: Fragile sites in newborns. Proc. Jpn. Acad. (Ser. B). 64:61-63, 1988.
    Aberration: Fragile sites
    Positive band
  • Kleczkowska A, Fryns J P, Van Den Berghe H: Partial trisomy of chromosome 3(p14 to p22) due to maternal insertional translocation. Ann. Genet. 27:180-183, 1984. [PubMed: 6334484]
    46,XX and XY,-4,+der(4)(4qter -> 4p15:3p14 -> 3p22:4p15 -> 4pter)mat.
    Patient F. L. V.
    46,XX,ins(4;3)(p15;p14p22).
    Aberration: Direct insertion between two chromosomes
    Positive band
  • Li F P, Decker H J H, Zbar B, Stanton V P, Jr, Kovacs G, Seizinger B R, Aburatani H, Sandberg A A, Berg S, Hosoe S, Brown R S: "Clinical and genetic studies of renal cell carcinomas in a family with a constitutional 3;8 translocation. Genetics of familial renal carcinoma." Ann. Int. Med. 118:106-111, 1993. [PubMed: 8416305]
    46,XX and XY,der(3)der(8)t(3;8)(p14;q24)mat and pat.
    A follow-up report of this important family study.
    Aberration: Reciprocal translocation
    MIM#: 144700
    Index Terms: Renal ... cell carcinoma
    Positive band
  • Mann J, Wcislo K, 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. 321.
    46,XX,t(3;6)(p14;q25)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Markkanen A, Knuutila S, de la Chapelle A: Inducible fragile site on chromosome 3. Hum. Genet. 65:217, 1983. [PubMed: 6654339]
    Aberration: Fragile sites
    Positive band
  • Murata M, Otsuka M, Hayakawa Y, Takahashi E I, Tsuji H, Hori T A: A population cytogenetic study of a common fragile site, fra(3)(p14), in a healthy population. Jpn. J. Hum. Genet. 35:291-302, 1990. [PubMed: 2094778]
    Aberration: Fragile sites
    Positive band
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship A.R. in this report.
    t(3;8)(p14;q24).
    Aberration: Reciprocal translocation
    Positive band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,t(3;11)(p14;p15).
    Aberration: Reciprocal translocation
    Positive band
  • Priest J H, 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. 406.
    46,XY,t(3;18)(p14;q23)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Rivera H, Hernandez A, Rolon A, Ibarra B, Alcaraz A, Cantu J M: Familial pericentric inversion (3)(p14q24). Ann. Genet. 22:43-46, 1979.
    Other members of the family without malformations had the same inversion. The six year old had macrocephaly, peculiar facies and lumbar hypertrichosis.
    Aberration: Inversion pericentric
    Index Terms: Face ... anomalies,Hypertrichosis,Macrocephaly
    Positive band
  • Smeets D, Scheres J, Hustinx T W J: The most common fragile site in man is 3p14. Hum. Genet. 74:330, 1986. [PubMed: 3781565]
    Smeets D F C M, Scheres J M J C, Hustinx T W J: The most common fragile site in man is 3p14. Hum. Genet. 72:215-220, 1986. [PubMed: 2937710]
    Aberration: Fragile sites
    Positive band
  • Stamberg J, Keiles S, 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. 331.
    46,XX,-7,+der(7),t(3;7)(p14;p22)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Stoll C, Levy J M: "De novo translocation t(3;20)(p14;p12) in a girl." Ann. Genet. 17:197-199, 1974. [PubMed: 4548822]
    Subject M. Catherine (020470) in this report.
    46,XX,t(3;20)(p14;p12).,46,XX,t(3;20)(3qter->3p14::20p12->20pter;,20qter->20p12::3p14->3pter).
    Aberration: Reciprocal translocation
    Positive band
  • Subrt I: "Verification of the previously reported t(3p-;17q+) by G banding." Humangenetik 23:233-234, 1974. [PubMed: 4136169]
    46,XY,t(3;17)(p14;q23).,46,XY,t(3;17)(3qter->3p14::17q23->17qter;17pter->17q23::3p14->3pter).,46,XX,der(3)der(17)t(3;17)(p14;q23)pat.,47,XY,+21,der(3)der(17)t(3;17)(p14;q23)pat.,See entry 03p000 (Subrt and Prchlikova, 1969).
    Aberration: Reciprocal translocation
    Positive band
  • Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]
    Couple No. 5 in Group I with 4 abortions.
    46,XX,t(3;14)(p14;q31).
    Aberration: Simple translocation
    Positive band
  • Turleau C, Chavin-Colin F, de Grouchy J: Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obst. Gynecol. Reprod. Biol. 9:65-74, 1979. [PubMed: 264085]
    Laboratory register No. 8055.
    inv(3)(p14q12).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Verma R S, Peakman D C, Robinson A, Lubs H A: Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities. Cytogenet. Cell Genet. 16:479-486, 1976. [PubMed: 975933]
    Case No. 1856 in this report.
    46,XX,inv(3)(p14;q11),del(3pter -> p24::p26 -> qter)mat.&The nomenclature as given in Table 1 of this report is not complete but the above interpretation drawn from the figure seems -> be appropriate. The proband had abnormal ears, high arched palate and mild mental retardation.
    Aberration: PI,ID
    Index Terms: Ears ... anomalies (dysmorphic),Palate ... high arched
    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(3;15)(p14;q22).
    Aberration: Reciprocal translocation
    Positive band
  • Yan Z A, Li X, Zhou X: The effect of hydroxyurea on the expression of the common fragile site at 3p14. J. Med. Genet. 24:593-596, 1987. [PMC free article: PMC1050285] [PubMed: 3681903]
    Aberration: Fragile sites
    Positive band
  • Zhou X, Xu B, Chu C, Xia G, Li N, Sha R: Human chromosome hot spots. 1. Hot point at 3p14 in three populations. Hum. Genet. 67:249-251, 1984. [PubMed: 6469239]
    Aberration: Marker chromosome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106446

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