01p340

1p34

Publication Details

  • 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;4)(p34;p11); t(1;8)(p34;q24); t(1;13)(p34;q33); t(1;17)(p34;p11).
    Aberration: Reciprocal translocation
    Negative band

  • Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]
    46,XX,t(1;2)(p34;q37).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Dignan P, Krouskop L, 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. 135.
    46,XY,t(1;17)(p34;q12)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Jackson L G, Sherwood M F, Miller R C, Aronson M M, Greene A E, Coriell L L: "A (1;7) translocation balanced, from a subject associated with repeated abortions. Repository identification No. GM-1356." Cytogenet. Cell Genet. 21:175, 1978. [PubMed: 657849]
    Kondo I, Shimizu N: Mapping of the human gene for epidermal growth factor receptor (EGFR) on the p13q22 region of chromosome 7. Cytogenet. Cell Genet. 35:9-14, 1983. [PubMed: 6297856]
    A 26 year-old white female with one normal child and a history of repeated abortions. Her mother, two sisters and son show the same translocation.&"46,XX,t(1;7)(p34;p13)."&"46,XX,t(1;7)(1pter -> 1p34::7p13 -> 7qter;7pter -> 7p13::1p34 -> 1qter)."
    Aberration: Reciprocal translocation
    MIM#: 131550
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    46,XY,t(1;7)(p34;p13.1)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Macgregor D J, Imrie S, Tolmie J L: Outcome of de novo balanced translocations ascertained prenatally. J. Med. Genet. 26:590-591, 1989. [PMC free article: PMC1015701] [PubMed: 2810345]
    Proband 5.
    t(1;11)(p34;q13).
    Clinically normal at age 4.9 years.
    Aberration: Reciprocal translocation
    Negative band

  • Meschede D, Froster U G, Bergmann M, Nieschlag E.: Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. J. Med. Genet. 31:573-575, 1994. [PMC free article: PMC1049983] [PubMed: 7966196]
    46,XX and XY,inv(1)(p34q23).
    An interesting report of familial inversion but with different reproductive performance in carriers.
    Aberration: Inversion pericentric
    Index Terms: Infertility, Spermatogenic arrest
    Negative band

  • Micic M D, Micic S R: "Meiotic findings in human reciprocal 1;3 translocation." Hum. Genet. 57:442-443, 1981. [PubMed: 7286989]
    Patient C. M., 23 years old, was investigated for infertility: at meiosis a ring quadrivalent was observed and there was no endocrine disorder
    46,XY,t(1;3)(p34;p21).
    Aberration: Reciprocal translocation
    Index Terms: Sterility
    Negative band

  • Palova A: Correction. Hum. Genet. 70:94, 1985.
    Palova A, Halasova E, Kamenicka E, Kadasi L: De novo deletion 1p(34 to pter). Hum. Genet. 69:94, 1985.
    46,XY,del(1)(1qter -> 1p34:).
    Aberration: Terminal deletion
    Negative band

  • Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E: No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomittant familial chromosome rearrangements. AJHG 50:288-293, 1992. [PMC free article: PMC1682467] [PubMed: 1531165]
    Patient 3.
    46,XY,t(1;16)(p34;p13).
    Aberration: Reciprocal translocation
    Index Terms: Interchromosomal effect
    Negative band

  • Toth A, Gaal M, Sara G, Laszlo J: Pericentric inversion of chromosome 1 in an azoospermic man. J. Med. Genet. 19:303-305, 1982. [PMC free article: PMC1048900] [PubMed: 7120320]
    Patient was 26 years old.
    46,XY,inv(1)(p34q23).
    Aberration: Inversion pericentric
    Index Terms: Azoospermia
    Negative 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. 8363.
    t(1;17)(p34;p11).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative 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,inv(1)(p34q21).
    Aberration: Inversion pericentric
    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 DD 9401999:
    46,XX,t(1;6)(p34;p21.1)mat.
    Case ascertained because of abnormal phenotype.
    Lab ID DD9102800:
    46,XX,t(1;22)(p34;q11).
    Case ascertained because a relative had an abnormal karyotype.
    Lab ID DD9204692:
    46,XX,t(1;14)(p34;q22)mat.
    Ascertained during prenatal diagnosis.
    Aberration: Reciprocal translocation

  • Ziter F A, Wiser W C, Robinson A: Three-generation pedigree of a Mobius syndrome variant with chromosome translocation. Arch. Neurol. 34:437-442, 1977. [PubMed: 880069]
    46,XX and XY,t(1;13)(p34;q13)mat and pat.,An association between the translocation and the Mobius syndrome is possible.
    Aberration: Reciprocal translocation
    MIM#: 157900
    Negative band