13p120

13p12

Publication Details

  • Abe T, Misawa S, Nishioka K, Okuno T, Nakagome Y: Formation of a ring chromosome 14 subsequent to the de novo 13/14 reciprocal translocation: A new cytogenetic evidence obtained by the nucleolus organizer staining. Ann. Genet. 21:109-112, 1978.
    46,XX,der(13),rcp(13;14)(p12;q24)r(14)(p13q24).&"46,XX,der(13)rcp(13;14)(13pter -> 13p12::14q24 -> 14pter;13qter -> 13p12::14q24 -> 14qter)r(14)(p13 -> q24)."
    Case K. H., 2 years old with multiple malformations and developmental retardation.
    Aberration: Simple translocation
    Index Terms: Developmental retardation
    Variable 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]
    inv(13)(p12q14).
    Aberration: Inversion pericentric
    Variable band

  • Cossu P, Diana G, Mameli M, Cardia S, Milia A, Floris G, Cao A: A case of D13 ring chromosome. Hum. Genet. 46:111-114, 1979. [PubMed: 429001]
    Case C.M.P., a 4-1/2 year-old female (mother-33, father-36) is presented. Characteristics were severe mental retardation, microcephaly, epicanthus, broad and prominent nasal bridge, and large and low-set ears. Parents had normal karyotypes.
    46,XX,r(13)(p12q34).
    Aberration: Ring chromosome
    Index Terms: Ears ... large,Ears ... low-set,Epicanthal folds,Microcephaly
    Variable band

  • Daniel A: Single Cd band in dicentric translocations with one suppressed centromere. Hum. Genet. 48:85-92, 1979. [PubMed: 457138]
    NSW chromosome registry Nos. 1956, 1964 and 1662.
    t(13;14)(p12;p12).
    Aberration: Simple translocation
    Variable band

  • de Perdigo A, Gabriel-Robez O, Rumpler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Saadallah N, Hulten M A: EM investigations of surface spread synaptonemal complex in a human male carrier of a pericentric inversion inv(13)(p12q14): the role of heterosynapsis for spermatocyte survival. Ann. Hum. Genet. 50:369-383, 1986. [PubMed: 3442404]
    Case 2.
    46,XY,inv(13)(p12q14).
    Ascertained because of recombinant offspring.
    It is hypothesized that loops are formed when breaks are in G-light bands, with the genetic consequences of crossing-over.,Also see report of Gabriel-Robez et al (1994) in Ann. Gen et. 37:3-10.
    Aberration: Inversion pericentric
    Variable band

  • Duca-Marinescu D, Meila P, Ionescu-Cerna M, Gheorghe V, Joan D, Maximilian C: "Partial trisomy for the long arm of chromosome 16: 46,XY,der(13)t(13;16)(p12;q13)." Acta Med. Auxol. 11:171-174, 1979.
    46,XX,t(13;16)(13qter->13p12::16q13->16qter;,16pter->16q13::13p12->13pter).,46,XY,-13,+der(13)t(13;16)(13qter->13p12::16q13->16qter)mat.
    Patient P.D. was 8 days old with multiple malformations including craniosynostosis, microphthalmia, antimongoloid palpebral slits, prominent nose, maxilary hypoplasia, inguinal hernia, hypospadias, clubfoot, ventricular septal defect, and absence of mesentary.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16q+
    Variable band

  • Heim S, Kristoffersson U, Mandahl N, Mineur A, Mitelman F, Edvall H, Gustavii B: Chromosome analysis in 100 cases of first trimester trophoblast sampling. Clin. Genet. 27:451-457, 1985. [PubMed: 4006268]
    Case No. 51.
    46,XX,inv(13)(p12q14).
    Aberration: Inversion pericentric
    Variable band

  • Hevia A, Bullon M, Novales M A, Fdez-Novoa C, San Martin V, Galera H: Ring chromosome 13. Ann. Genet. 22:232-233, 1979. [PubMed: 317788]
    Parents of the infant had normal karyotypes.
    mos46,XX,r(13)/45,XX,-13(90%/10%).
    Aberration: Ring chromosome
    Variable band

  • Hsu L Y F, Kim H J, Sujansky E, Kousseff B G, Hirschhorn K: "Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12)." Cytogenet. Cell Genet. 12:235-244, 1973. [PubMed: 4752865]
    Case 2 in this report.
    46,XY,-13,+t(13;13)(p12;p12).&"46,XY,-13,+tdic(13;13)(I13qter -> I13p12::II13p12 -> II13qter)."
    Aberration: Robertsonian translocations
    Variable band

  • Lorentz C P, Jalal S M, Thompson D M, Babovic-Vuksanovic D.: Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies. AJMG 111:61-67; DOI=10.1002/ajmg.10457, 2002. [PubMed: 12124737]
    46,XX-13[5]/46,XX,r(13)(p12q1?2)[125]-blood.,mos46,XX,r(13)(p12q1?2)[18]/46,XX[12].
    The patient had MCA including airway anomalies.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 13q-

  • Lucas J, Le Mee F, Picard F, Le Marec B, Junien C: Trisomy 13q13 to 13qter by ''aneusomie de recombinaison'' of a maternal pericentric inversion. Ann. Genet. 26:187-190, 1983. [PubMed: 6606383]
    46,XX,rec(13),dup q, inv(13)(p12q13)mat.
    Aberration: Inversion pericentric
    Variable band

  • Lynch S A, Ashcroft K A, Zwolinski S, Clarke C, Burn J.: Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. J. Med. Genet. 32:227-230, 1995. [PMC free article: PMC1050324] [PubMed: 7783176]
    46,XY,psu dic(13)(13pter->13q12.11::13p12->13q11::13q12.11->13qter).
    Twin 1 was 14 months old; twin 2 died.
    Aberration: Dicentric chromosome
    MIM#: 147920
    Index Terms: Kabuki syndrome
    Variable band

  • Mikkelsen M, Hansson A, Jacobsen P, Hobolth N: Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis. Humangenetik 27:303-307, 1975. [PubMed: 125223]
    45,XX,t(13;21)(p12;q11).&"45,XX,t(13;21)(13qter -> 13p12::21q11 -> 21qter)."&"45,XX,der t(13;21)(p12;q11)mat."
    Case IV-1 (000073) in this report.
    46,XX,-13,+der(13)t(13;21)(p12q11)mat.
    Aberration: Robertsonian translocations
    Variable band

  • Niebuhr E: Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16:217-226, 1972. [PubMed: 4117153]
    Case 1 in this report.
    45,XX,tdic(13;13)(p12;p12).&"45,XX,tdic(13;13)(13qter -> 13p12::13p12 -> 13qter)."
    Case 2 in this report.
    45,XX,tdic(13;14)(p12;p11 or 12).&"45,XX,tdic(13;14)(13qter -> 13p12::14p11 or 14p12 -> 14qter)."
    Aberration: PI,DI
    Variable band

  • Niebuhr E: Reexamination of a family with a +(13q14q) and a ring D(13) child. Ann. Genet. 16:199-202, 1973. [PubMed: 4127869]
    46,XY,r(13)(p12q33).&46,XY,r(13)(p12 -> q33).
    Aberration: Ring chromosome
    Variable band

  • Pai G S, Shields S M, Houser P M: Segregation of inverted chromosome 13 in families ascertained through liveborn recombinant offspring. AJMG 27:127-133, 1987. [PubMed: 3605191]
    A three generation family is reported.
    46,XX or XY,inv(13)(p12q21/22).&46,XY,dup q, rec(13)(p12q21/22)mat or pat.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 13q+
    Variable band

  • Savary J B, Vasseur F, Manouvrier S, Daudignon A, Lemaire O, Thieuleux M, Poher M, Lequien P, Deminatti M M: "Trisomy 16q23 to qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique." Hum. Genet. 88:115-118, 1991. [PubMed: 1959917]
    Patient Jodie D., 130790.
    46,XX,t(13;16)(p12;q23).&"46,XX,-13,+der(13)t(13;16)(13qter -> 13p12::16q23 -> 16qter)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16q+
    Variable band

  • Taysi K, Bobrow M, Balci S, Madan K, Metin A, Say B: Duplication/deficiency product of a pericentric inversion in man. A cause of D1 trisomy syndrome. J. Ped. 82:263-268, 1973. [PubMed: 4684369]
    46,XX,inv(13)(p12q14).
    Aberration: PI,RE
    Variable band