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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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  • Same entry as in 01q310 (Youings et al, 2003).

  • Same entry as in 04q270 (Grasshoff et al, 2004).

  • Same entry as in 01q440 (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(4;15)(q28;q21); t(4;18)(q28;q23); t(4;21)(q28;q21).
    Aberration: Reciprocal translocation
    Positive band
  • Brodeur G M, Caces J, Williams D L, Lookk A T, Pratt C B: Osteosarcoma, fibrous dysplasia, and a chromosomal abnormality in a 3-year-old child. Cancer 46:1197-1201, 1980. [PubMed: 6938302]
    The patient and his mother were found to have the same translocation.
    46,XX,t(4;7)(p22;q28).&"46,XY,del(4)(pter -> q27:),t(4;7)(7qter -> 7p22::4q28 -> 4q35)."
    Aberration: Simple translocation
    Index Terms: Sarcoma
    Positive band
  • Copelli S, del Rey G, Heinrich J, Coco R.: Interstitial deletion of the long arm of chromosome 4, del(4)(q28->q31.3). AJMG 55:77-79, 1995. [PubMed: 7702102]
    46,XX,del(4)(q28;q31.3)de novo,der(15)(s+)mat.
    Patient followed up to 9 years of age; she had mild dysmorphic features and received special education due to mild MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Positive band
  • Dutrillaux B, Laurent C, Forabosco A, Noel B, Suerinc E F, Biemont M C, Cotton J B: La trisomie 4q partielle. Apropos de 3 observations. Ann. Genet. 18:21-27, 1975. [PubMed: 238457]
    Gandini E, Dallapiccola B, Laurent C, Suerinc E F, Forabosco A, Conconi F, Del Senno L: Evidence for localization of genes for human alpa-globin on the long arm of chromosome 4. Nature 265:65-66, 1977. [PubMed: 834243]
    46,XX,t(4;18)(q28;q22).&"46,XX,t(4;18)(4pter -> 4q28::18q22 -> 18qter;4qter -> 4q28::18q22 -> 18pter)."&"46,XY,-18,+der(18)t(4;18)(q28;q22)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Francisco-Bagnariolli A M, Payao S L M, Kawasaki-Oyama R S, Filho D S, Segato R, de Labio R W, Chauffaille M de L L F, Priest J H. : High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22). AJMG 103: 302-307, 2001. [PubMed: 11746010]
    Proband IV-19=46,XX,der(7)t(4;7)(7qter->7p22::4q28->4qter)mat.
    The 3 patients had similar mental and developmental retardation, hypotonia, restricted speech, seizures, and facial anomalies.
    There were 2 other family members with the same anomaly as that of the proband in this four-generation family.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q+;7p-
    No band
  • Same entry as in 04p140 (Hsu et al, 1996).

  • 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. K189-267-71 in this report.
    Aberration: Simple translocation
    Positive band
  • Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene C L, Raffel L J, Sullivan B, Schwartz S: Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. AJHG 52:1067-1073, 1993. [PMC free article: PMC1682285] [PubMed: 8503441]
    Case 4.
    The patient had multiple congenital anomalies.
    The clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+,11q-
    Index Terms: FISH
    Positive band
  • Martin R H, Barclay L, Hildebrand K, Ko E, Fowlow S B: Cytogenetic analysis of 400 sperm from three translocation heterozygotes. Hum. Genet. 86:33-39, 1990. [PubMed: 2253936]
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome analysis
    Positive band
  • Same entry as in 04q110 (Mikkelsen et al, 1977).

  • Mohandas T K, Kaback M 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. 532.
    Aberration: Whole-arm translocations
    Positive band
  • Same entry as in 04q210 (Navarro et al, 1996).

  • Oliver-Bonet M, Navarro J, Codina-Pascual M, Carrera M, Egozcue J, Benet J.: Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei. Europ. J. Hum. Genet. 9:395-403, 2001. [PubMed: 11436119]
    The wife had experienced three miscarriages.
    One pregnancy was terminated beacuse of the presence of partial trisomie of 8p and 4q.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q+;8p+
  • Rosenberg M J, Vaske D, Killoran C E, Ning Y, Wargowski D, Hudgins L, Tifft C J, Meck J, Blancato J K, Rosenbaum K, Pauli R M, Weber J, Biesecker L G.: Detection of chromosomal aberrations by a whole-genome microsatellite screen. AJHG 66:419-427, 2000. [PMC free article: PMC1288094] [PubMed: 10677301]
    Family 14. The 9 yo proband had multiple minor anomalies with developmental and growth retardation and microcephaly.
    The karyotypic abnormality was detected after the microsatellite scan.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: Whole-genome microsatellite screen
    No band
  • Same entry as in 04q260 (Semina et al, 1996).

  • Same entry as in 01q240 (Stoll et al, 1984).

  • Viguie F, Romani F, Dadoune J P: "A case of anorchia with translocation t(4;6)." Ann. Genet. 26:38-40, 1983.
    Patient Phillipe C....000068.
    Aberration: Simple translocation
    MIM#: 273250
    Index Terms: Anorchia
    Positive band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    Aberration: Simple translocation
    Positive band
  • Same entry as in 04p130 (Wolf G C et al, 1994).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105607
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