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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • 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(3;5)(q22;p15); t(3;20)(q22;p11).
    Aberration: Reciprocal translocation
    Positive band
  • Brown S, Gersen S, Anyane-Yeboa K, Warburton D: "Preliminary definition of a ""critical region"" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature." AJMG 45:52-59, 1993. [PubMed: 8418661]
    Patient 4, J.N.
    46,XX,t(3;13)del(13)(3pter -> 3q22::13q34 -> 13qter;13pter -> 13q14::13q22 -> 13q34::3q21 -> 3qter)de novo.
    Chromosomal Aneuploidy: 13q-
    Positive band
  • Cantu J M, Ruiz C: On a prezygotic origin of normal/balanced translocation mosaics. Ann. Genet. 29:221-222, 1986. [PubMed: 3495220]
    Aberration: Simple translocation
    Positive band
  • Chen C-P.: Prenatal diagnosis of partial trisomy 3q(3q22->qter) and monosomy 6q(6q25.3->qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion. Prenat. Diag. 21:73, 2001. [PubMed: 11180248]
    Sonography revealed the anomalies of the fetus. The pregnancy was terminated. Autopsy confirmed the anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+;6q-
    Index Terms: Cystic hygromata colli,pleural effusion unilateral
  • Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dune M, Kolvraa S, Lundsteen C.: Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. AJMG 127A:111-117, 2004. [PubMed: 15108196]
    Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 7=46,XX,del(3)(q22q24)de novo, and as Case 31 in 2004 paper dim(3q22q24).
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
  • Mann J, Wcislo K, 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. 409.
    Aberration: Reciprocal translocation
    Positive band
  • Miller Y E, Jones C, Scoggin C H, Morse H, Seligman P A: Chromosome 3q(22-ter) encodes the human transferrin receptor. AJHG 35:573-583, 1983. [PMC free article: PMC1685748] [PubMed: 6309000]
    MIM#: 190010
    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
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+;18p-
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105749


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