05q120

5q12

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(5;17)(q12;q22); t(5;18)(q12;q22).
    Aberration: Reciprocal translocation
    Positive band

  • Fryns J P: "Maternal autosomal translocation t(5;18)(q12;q11) and Edwards syndrome in the fetus." Clin. Genet. 28:397, 1985. [PubMed: 4085144]
    Fryns J P, Kleczkowska A, Moerman Ph, Van Den Berghe H: Reciprocal translocations and full trisomy (trisomy 18 and trisomy 21) in the offspring. Ann. Genet. 29:272-274, 1986. [PubMed: 3495232]
    Case 1: 46,XX,t(5;18)(q12;q11).&"47,XY,+18,der(5)der(18)t(5;18)(q12;q11)mat."
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18)
    Positive band

  • Midro A T, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 41:113-122, 1992. [PubMed: 1563084]
    Family 4: Patient M.T.
    46,XX,t(5;13)(q12;q34).
    Risk estimates for carriers detected among couples with reproductive failures are presented.
    Aberration: Reciprocal translocation
    Positive band

  • Morichon-Delvallez N, Marchand F: Paracentric inversions in man. Two familial observations. Ann. Genet. 28:119-122, 1985. [PubMed: 3876061]
    Observation 2: M. et Mme B.
    46,XX,inv(5)(q12q34).
    Aberration: Inversion paracentric
    Positive band

  • Nielsen J, Rasmussen K: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10:161-177, 1976. [PubMed: 786515]
    46,XY,t(5;20)(q12;p11).
    Case No. 12,677 in this report.
    46,XX,der(5)der(20)t(5;20)(q12;p11)pat.
    Aberration: Simple translocation
    Positive band

  • Nordgren A, Arver S, Kvist U, Carter N, Blennow E.: Trisomy 5q12->q13.3 in a patient with add(13q): characterization of an interchromosomal insertion by forward and reverse chromosome painting. AJMG 73:351-355, 1997. [PubMed: 9415698]
    46,XY,der(13)ins(13;5)(q34;q12q13.3)
    The patient was 25 years old with azoospermia, mild MR, and minor physical abnormalities.
    The add(13q) was identified using flow sorting combined with degenerate oligonucleotide-primed (DOP) PCR and reverse painting.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 5q+

  • Stoll C, Levy J M, Champy M: "Balanced familial translocation t(5;19)(q12;p or q11) with phenotypical abnormalities in a girl." Humangenetik 27:263-267, 1975. [PubMed: 1150248]
    Patient Nadine (111161) in this report.
    46,XY,t(5;19)(q12;p or q11).&"46,XX,-5,-19,+der(5)+der(19),t(5;19)(q12;p or q11)pat."
    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. 9:65-79, [PubMed: 264085]
    inv(5)(q12q15).
    Aberration: Inversion paracentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • van den Berghe H, Cassiman J J, David G, Fryns J P, Michaux J L, Sokal G: Distinct haematological disorder with deletion of the long arm of No. 5 chromosome. Nature 251:437-438, 1974. [PubMed: 4421285]
    46,XX and XY,del(5)(q12 -> 15 and q21 -> 23).&46,XX and XY,del(5)(pter -> q12::q23 -> qter).&The hematological disorder is characterized by longstanding aregenerative slightly macrocytic anemia. Two females and one male were studied. The chromosome abnormality was found in bone marrow cells cultured without phytohemagglutinin.
    Aberration: Interstitial deletion
    Index Terms: Anemia ... macrocytic
    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,XY,t(5;15)(q12;q22).
    Aberration: Reciprocal translocation
    Positive band

  • Wolff G, Back E, Arleth S, Rapp-Korner U: Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clin. Genet. 35:404-416, 1989. [PubMed: 2736789]
    Case No. 25.
    46,XX and XY,t(5;15)(q12;q15).
    Aberration: Simple translocation
    Positive band