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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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  • Cox D W, Markovic V D, Teshima I E: Genes for immunoglobulin heavy chains and for alpha-antitrypsin are localized to specific regions of chromosome 14q. Nature 297:428-430, 1982. [PubMed: 6804874]
    Family 2 (HSC-C3). Proband was 7 years old with microcephaly and primary pulmonary hypertension and neutropenia.
    Aberration: Inversion paracentric
    Index Terms: Microcephaly,Neutropenia,Pulmonary hypertension
    Negative band
  • Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]
    Patient 3
    Genetic counselling for tetralogy of fallot.
    Aberration: Direct insertion between two chromosomes
    Negative band
  • Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 15.
    Aberration: Inversion paracentric
    Negative band
  • Martin R H.: Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 14 (q24.1q32.1). AJHG 64:1480-1484, 1999. [PMC free article: PMC1377889] [PubMed: 10205284]
    Case was ascertained at amniocentesis, done because of advanced maternal age. No recombinants, dicentrics and other anomalies were seen.
    Aberration: Inversion paracentric
    Index Terms: Sperm ... chromosome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Miller K, Raabe G, Schlesinger C, Schulze B: Paracentric inversion 14. Ann. Genet. 33:225-227, 1990. [PubMed: 2095705]
    The 34-year-old woman was ascertained because of multiple abortions. Her mother had a normal karyotype and her two daughters were carriers.
    Aberration: Inversion paracentric
    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]
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106175
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