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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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08p110

8p11
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 25:
    t(8;11)(p11;q25)mat.
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    No band
  • Bass E B, Smith S W, Stevenson R E, Rosse W F: Further evidence for location of the spherocytosis gene on chromosome 8. Ann. Int. Med. 99:192-193, 1983. [PubMed: 6881776]
    46,XX,t(3;8)(p21;p11).&"46,XY,der(3),der(8)(p21;p11)mat."
    Both have hereditary spherocytosis.
    Aberration: Simple translocation
    MIM#: 182900
    Negative band
  • Beighle C, Karp L E, Hanson J W, Hall J G, Hoehn H: Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum. Genet. 38:113-121, 1977. [PubMed: 903151]
    Parents and siblings have normal chromosomes 8.
    Patient 1(DR6955) in this report.
    46,XX,del(8)(pter -> p21::p11 -> qter).
    Aberration: Interstitial deletion
    No 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(8)(p11q21).
    Aberration: Inversion pericentric
    No band
  • Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]
    46,XY,t(8;13)(p11;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Chiyo H A, Nakagome Y, Matsui I, Kuroki Y, Kobayashi H, Ono K: Two cases of 8p trisomy in one sibship. Clin. Genet. 7:328-333, 1975. [PubMed: 1126055]
    46,XY,rcp(8;13)(p11;q34).&"46,XY,rcp(8;13)(8qter -> 8p11::13q34 -> 13qter;13pter -> 13q34::8p11 -> 8pter)."
    Case 1 in this report.
    46,XX and XY,-13,+der(13)rcp(8;13)(p11;q34)pat.&These patients are trisomic for 8p11 -> 8pter segment.
    Aberration: Reciprocal translocation
    No band
  • Funderburk S J, Barrett C T, Klisak I: Report of a trisomy 8p infant with carrier father. Ann. Genet. 21:219-222, 1978. [PubMed: 314258]
    46,XY,rcp(8;15)(p11;p11).&"46,XY,der(15),rcp(8;15)(p11;p11)pat."&"46,XY,der(15)rcp(8;15)(15qter -> 15p11::8p11 -> 8pter)pat."&This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations and trisomy 8p. Review of six previously reported trisomy 8p patients revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal and cardiac defects. The features of the seven trisomy 8p patients reviewed in the report are not sufficiently similar -> suggest a distinct dysmorphic syndrome. In addition, the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.
    Aberration: Reciprocal translocation
    Index Terms: Cleft lip/palate,Congenital heart defects (cardiovascular anomalies),Stature ... short (low)
    No band
  • George D L, Francke U: Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. Cytogenet. Cell Genet. 17:282-286, 1976. [PubMed: 1017318]
    46,XX,t(8;21)(p11;p11).
    Patient J.N. a 15 year old in this report.
    46,XX,-21,+der(21)t(8;21)(p11;p11)mat.&There was expression of three alleles for glutathione reductase (GSR) in three patients (this one and two others - see report of Taylor et al under 08p120 and 08p210) which allowed regional localization of GSR -> segment 8p21 -> 8p23.
    Aberration: Simple translocation
    MIM#: 138300
    No band
  • Herva R, de la Chapelle A: A large pericentric inversion of human chromosome 8. AJHG 28:208-212, 1976. [PMC free article: PMC1685005] [PubMed: 944528]
    46,XY,inv(8)(p11q24).&This inversion was traced in three generations and the heterozygotes were phenotypically normal.
    Aberration: Inversion pericentric
    No band
  • Hongell K, Knuutila S, Westermarck T: Two cases of an abnormal short arm of chromosome 8(8p+) associated with mental retardation. Clin. Genet. 13:237-240, 1978. [PubMed: 627113]
    Case 2 (10 year old) in this report.
    46,XX,ins(8;?)(p11;?).
    Aberration: Direct insertions within a chromosome
    No band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K199-202-70 in this report.
    46,XX,t(8;15)(p11;q24 or 25 or 26).
    Aberration: Simple translocation
    No band
  • Kaiser P, Zabel B, Hansen S, Daume E: Short arm deletion of an X chromosome, 46,XXp-. Hum. Genet. 32:89-100, 1976. [PubMed: 1262028]
    46,XX,inv(8)(p11q22).&46,XX,der inv(8)(p11q22)mat.&This inversion was detected in the karyotype of the mother who had a daughter with a deleted short arm X chromosome.
    Aberration: Inversion pericentric
    No band
  • Kaiser P: Pericentric inversions-Problems and significance for clinical genetics. Hum. Genet. 68:1-47, 1984. [PubMed: 6389316]
    Family Fi. 136/75.
    inv(8)(p11q21).
    Aberration: Inversion pericentric
    No band
  • Kimberling W J, Fulbeck T, Dixon L, Lubs H A: Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. AJHG 27:586-594, 1975. [PMC free article: PMC1762822] [PubMed: 1163534]
    46,XX,t(8;12)(p11;p13).&"46,XX and XY,der(8),t(8;12)(p11;p13)mat."
    "It cannot be determined with certainty that a reciprocal exchange occurred: it is possible that there was a break in 8p11 without transfer of 12p13 material to chromosome 8. The designation of a reciprocal exchange is presumptive." In view of the above comment of the authors we have coded this translocation as ST.
    Aberration: Simple translocation
    MIM#: 182900
    Chromosomal Aneuploidy: 8p-
    Index Terms: Spherocytosis
    No band
  • Mattei J F, Mattei M G, Ardissone J P, Coignet J, Giraud F: Clinical, enzyme, and cytogenetic investigation in three new cases of trisomy 8p. Hum. Genet. 53:315-321, 1980. [PubMed: 7372335]
    Case 1 in this report. Parental karyotypes normal.
    Duplication 8p211 -> 8p232.
    Case 2 in this report. Parents not karyotyped.
    Duplication 8p11 -> 8p232. Band 8p233 deleted.
    Case 3 in this report.
    45,-8,-14,+t(8;14)(p11;q13).&"45,-8,-14,t(8;14)(8qter -> 8p11 -> 8p231::8p231 -> 8p11::14q13 -> 14qter)."
    Three cases with duplication of 8p segments have been reported.
    Aberration: Simple translocation
    No band
  • Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic I F, Beensen V, Claussen U, Liehr T.: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. DOI=10.1007.s004390100459, 2001. [PubMed: 11354630]
    Starke H, Schreyer I, Kahler C, Fiedler W, Beensen V, Heller A, Nietzel A, Claussen U, Liehr T.: Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8. Prenat. Diag. 19:1169-1174, 1999. [PubMed: 10590438]
    Prenatal:,Case 2=47,XX,+mar[43]/46,XX[7].,cenM-FISH47,XX,+r(8)(p11q12).,Case 3=47,XX,+mar[16]/46,XX[7].cenM-FISH47,XX,+der(8)(p11->q11).,Postnatal: Case 12=47,XX,+mar[15].cenM-FISH+r(8)(p11q12).
    Mother was 35 years old, had ICSI.
    47,XX,+mar[16]/46,XX[7].ish der(8)(wcp8-,D8Z2+) or 47,XX,+der(8)(p11->q11)de novo
    No anomalies were present and at 9 mo the child''s development is normal.
    Aberration: Ring chromosome
    Index Terms: SMC (small marker chromosome),cenM-FISH
  • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod. 11:2609-2612, 1996. [PubMed: 9021360]
    46,XX,t(8;12)(p11;q13)
    Aberration: Reciprocal translocation
    Index Terms: ICSI
    No band
  • Wingenfeld P, Herkenrath P, Schlensker S, Michalk D.: Partial trisomy of the chromosome 8 in a 12 month old girl (46,XX,8p+,dup(p11-pter). Monatsschr. Kinderheilkd. 142: 872-875, 1994.
    46,XX,dup(8)(qter->p23:p11->pter).
    The patient was 12 months old and had craniofacial dysmorphies, mental retardation and a floppy infant syndrome. It is suggested that agenesis of the corpus callosum seems to be a constant feature of this (8p+) syndrome.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: Agenesis of corpus callosum
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107045
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