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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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08q230

8q23
  • Same entry as in 01q440 (Levy et al, 1998).

  • Same entry as in 02q243 (Schrock et al, 1997).

  • Same entry as in 06p213 (Daniely et al, 1998).

  • Same entry as in 07p150 (Al and Zaki, 1999).

  • Same entry as in 08p120 (Al and Zaki, 1999).

  • Ariel I, Anteby E, Soffer D, Tobias M, Yagel S.: Monosomy 8q: prenatal diagnosis and autopsy findings. Prenat. Diag. 14:640-643, 1994. [PubMed: 7526369]
    46,XX,del(8)(q23)de novo
    Autopsy findings showed features similar to tricho-rhino-phalangeal syndrome, total absence of the corpus callosum and intestinal malrotation at 22 weeks. Case ascertained because of elevated beta-hCG.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8q-
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 18846 in this report.
    46,XY,t(8;9)(q23;p24).,46,XY,t(8;9)(8pter->8q23::9p24->9pter;,9qter->9p24::8q23->8qter).
    Patient I.P. No. 3136 in this report.
    46,XX,t(8;9)(q23;p21).,46,XX,t(8;9)(8pter->8q23::9p21->9pter;9qter->9p21::8q23->8qter).,46,XY,der(9)t(8;9)(q23;p21)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 01p311,07p210 (Boue and Gallano, 1984).

  • 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(8;9)(q23;p23).
    Aberration: Reciprocal translocation
    Positive band
  • English C J, Davison E V, Bhate M S, Barrett L: Chromosome studies of males in an institution for the mentally handicapped. J. Med. Genet. 26:379-381, 1989. [PMC free article: PMC1015622] [PubMed: 2525623]
    46,XY,-13,+t(8;13)(q23;p13).
    Aberration: Simple translocation
    Positive band
  • Same entry as in 08p210 (Fineman et al, 1979).

  • Fryns J P, Heremans G, Marien J, van den Berghe H: Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum. Genet. 64:194-195, 1983. [PubMed: 6885060]
    Intercalary deletion of band 8q23 is reported.
    Aberration: Interstitial deletion
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Positive band
  • Same entry as in 02q373 (Giorgi et al, 1978).

  • Goldblatt J, Smart R D: Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23. Clin. Genet. 29:434-438, 1986. [PubMed: 3742850]
    Patient was 20 years old with TRPS.
    del(8)(q23).
    Aberration: Interstitial deletion
    MIM#: 190350
    Positive band
  • Same entry as in 08q222 (Ishikiriyama S and Goto M, 1993).

  • Ludecke H J, Burdiek R, Senger G, Claussen U, Passarge E, Horsthemke B: Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. Hum. Genet. 82:327-329, 1989. [PubMed: 2567694]
    Patient TT.
    46,XY,del(8)(q23q24.1).
    See report of Pfeiffer(1980) under 08q130.
    Aberration: Interstitial deletion
    MIM#: 150230
    Chromosomal Aneuploidy: 8q-
    Positive band
  • Same entry as in 05q230 (Neri et al, 1987).

  • Pilgaard B, Jorgensen E, Knudsen V S, Mortensen E, Mikkelsen M: "Familial inversion translocation (8;13) with partial trisomy 13 in several family members." Europ. J. Ped. 140:105-108, 1983. [PubMed: 6884384]
    46,XX,inv(8)(q23q241)t(8;13)(q241;q32).,46,XX or XY,inv(8)(q23q241)der(8)t(8;13)(q241;q32)mat.
    Aberration: IP,ST
    Positive band
  • Same entry as in 02q370,08q130 (Stengel-Rutkowski S et al, 1992,1992).

  • Stetka D, 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. 824.
    46,XX,t(8;18)(q23;q21)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H: Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23. Hum. Genet. 62:183-187, 1982. [PubMed: 6984841]
    Case 2 (020974).
    46,XY,del(8)(q23).
    Aberration: Interstitial deletion
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    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(8;22)(q23;q11).
    46,XY,t(8;10)(q23;p14).
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 08q210 (Woods et al, 1994).

  • Zaletajev D V, Marincheva G S: Langer-giedion syndrome, in a child with complex structural aberration of chromosome 8. Hum. Genet. 63:178-182, 1983. [PubMed: 6840761]
    46,XY,inv(8)(q23->q242),del(8)(q221->q223),,ins(8;1)(q221;p321 p341;q242).,The patient was found to have an interstitial deletion of band 8q22 and had typical featutres of Langer-Giedion syndrome.
    Aberration: Inversion paracentric
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106342
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