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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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05q220

5q22
  • Same entry as in 02q373 (Maserati et al, 1999).

  • Same entry as in 05p142 (Montag et al, 1997).

  • Same entry as in 05q11.2 (Uhrig et al, 1999).

  • 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. 17:
    t(5;18)(q22;q21)pat.,Fetal karyotype - 46,XY,t(5;18).
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band
  • Bennett R L, Karayiorgou M, Sobin C A, Norwood T H, Kay M A.: Identification of an interstitial deletion in an adult female with schizophrenia, mental retardation, and dysmorphic features: further support for a putative schizophrenia-susceptibility locus at 5q21-23.1. AJHG 61:1450-1454, 1998. [PMC free article: PMC1716062] [PubMed: 9399892]
    Patient was 34 years old with schizophrenia, dysmorphic features and moderately retarded.
    46,XX,del(5)(q22q23.2)de novo
    Aberration: Interstitial deletion
    MIM#: 181510
    Chromosomal Aneuploidy: 5q-
    Index Terms: Schizophrenia-1
  • 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)(q22;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Cantu E S, Frias J, 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. 637
    46,XY,t(5;20)(q22;q13)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Chandley A C, Seuanez H, Fletcher J M: Meiotic behavior of five human reciprocal translocations. Cytogenet. Cell Genet. 17:98-111, 1976. [PubMed: 975939]
    Case 5, D.C. (MRC Registry No. PK 353/180/75) in this report.
    46,XY,t(5;6)(q22;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Cross I, Delhanty J, Chapman P, Bowles L V, Griffin D, Wolstenholme J, Bradburn M, Brown J, Wood C, Gunn A, Burn J: An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J. Med. Genet. 29:175-179, 1992. [PMC free article: PMC1015892] [PubMed: 1313112]
    Proband:46,XY,del(5)(q22q23.2).&46,XX,dir ins(5)(q31.3q22q23.2).
    Aberration: IN,ID
    MIM#: 175100
    Chromosomal Aneuploidy: 5q-
    Index Terms: Familial adenomatous polyposis
    Negative band
  • Fineman R, Morgan M, 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. 1092.
    47,X?,+21,t(5;21)(q22;q22)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Fryns J P, Bettens W, Van den Berghe H: Distal deletion of the long arm of chromosome 6: a specific phenotype. AJMG 24:175-178, 1986. [PubMed: 3706405]
    Patient B.C. was 8 months old.
    It is stated that "the translocation was reciprocal but non-balanced with the loss of chromosome material ---". This is an incorrect interpretation of the term "reciprocal translocation" as per ISCN 1985 p.33 description.
    46,XX,-5,-6,+del(5)(pter -> q22:),+der(6),(6pter -> 6q233::5q22 -> 5qter).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6q-
    Negative band
  • Same entry as in 0X0000 (Fryns J P et al, 1993).

  • Same entry as in 05q150 (Fukuda et al, 1984).

  • Higgins J V, Center J, 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. 1748.
    46,XX,inv(5)(q22q31)mat.
    Aberration: Inversion paracentric
    Negative band
  • Same entry as in 01q320 (Jalbert et al, 1975).

  • Kadotani T, Kanata S, Kubo S, Kodama H, Watanabe Y: A case with the interstitial deletion of the long arm of No. 5 chromosome. Proc. Jpn. Acad. (Ser. B) 60:406-409, 1984.
    46,XY,del(5)(q22q31).
    Patient was 28 years old; had dysmorphic features; and mother''s chromosomes were normal.
    Aberration: Interstitial deletion
    Negative band
  • Same entry as in 05q130 (Kessel and Pfeiffer, 1979).

  • Khodr G S, 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. 629.
    46,XY,t(5;18)(q22;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 6:
    46,XX,der dup(5)(q22q35)mat
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
  • Same entry as in 02q330 (Kousseff B G et al, 1992).

  • Same entry as in 01p341 (Lurie et al, 1994).

  • Same entry as in 02q220 (Farrell et al, 2003).

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

  • Same entry as in 05q150 (Pilarski et al, 1999).

  • Same entry as in 05q210 (Herrera et al, 1986).

  • Same entry as in 07q312 (Lai et al, 2001).

  • Same entry as in 05p130 (Martin et al, 1985).

  • Meschede D, Lemcke B, Exeler J R, De Geyter Ch, Behre H M, Nieschlag E, Horst J.: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection- prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 13:576-582, 1998. [PubMed: 9572415]
    Case No. 7:
    46,XY,t(5;8)(q22;q24.1)
    The 29yo had infertility due to oligoasthenoteratozoospermia.
    Aberration: Reciprocal translocation
    Index Terms: ICSI,Oligoasthenoteratozoospermia
    No band
  • Same entry as in 01p130 (Muneer R S et al, 1988).

  • Same entry as in 05q130 (Ohdo et al, 1982).

  • Pettenati M J, Rao P N, Phelan M C, Grass F, Rao K W, Cosper P, Carroll A J, Elder F, Smith J L, Higgins M D, Lanmn J T, Higgins R R, Butler M G, Luthardt F, Keitges E, Jackson-Cook C, Brown J, Schwartz S, Van Dyke D, Palmer C G. : Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. AJMG 55:171-187, 1995. [PubMed: 7717416]
    Case from Swedish Hospital Medical Center (F. Luthardt/E. Keitges).
    inv(5)(q22q31.3)pat.
    Mode of ascertainment was incidental/prenatal.
    Aberration: Inversion paracentric
    Index Terms: Inversions ... paracentric
    Negative band
  • Same entry as in 04q310 (Rivera et al, 1985).

  • Same entry as in 05p150 (Rivera et al, 1987).

  • Rivera H: Remarks on constitutional 5q deletions AJHG 53:532-533, 1993. [PMC free article: PMC1682351] [PubMed: 8328466]
    Rivera H, Simi P, Rossi S, Pardelli L, Di Paolo M C: A constitutional 5q23 deletion. J. Med. Genet. 27:267-268, 1990. [PMC free article: PMC1017033] [PubMed: 2325108]
    46,XX,del(5)(pter -> q22::q31.1 -> qter)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
    Negative band
  • Same entry as in 05q130 (Rodewald et al, 1982).

  • Same entry as in 02q230 (Sikkema-Raddatz et al, 1995).

  • van der Luijt R B, Tops C M J, Khan P M, van der Klift H M, Breukel C, van Leeuwen-Cornelisse I S J, Dauwerse H G, Beverstock G C, van Noort E, Snel P, Slors F J M, Vasen H F A, Fodde R.: Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for Familial adenomatous polyposis in a Dutch pedigree. Genes Chromo. Cancer 13:192-202, 1995. [PubMed: 7669739]
    Family 32:
    46,XX,t(5;10)(q22;q25).
    Both mother and daughter have the translocation and FAP. It appears to be a first description of FAP caused by a translocation disrupting the APC gene.
    Aberration: Reciprocal translocation
    MIM#: 175100
    Index Terms: Familial adenomatous polyposis
    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,t(5;9)(q22;p22).
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 02p112 (Yung J F et al, 1988).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106458
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