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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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  • Borck G, Wirth J, Hardt T, Tonnies H, Brondum-Nielsen K, Bugge M, Tommerup N, Nothwang H-G, Ropers H-H, Haaf T.: Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. J. Med. Genet. 38:117-120, 2001. [PMC free article: PMC1734808] [PubMed: 11288711]
    Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen P K A, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen K R, Rasmussen K, Tommerup N.: Disease associated balanced chromosome reaarngements: a resource for large scale genotype-phenotype delineation in man. J. Med. Genet. 37:858-865, 2000. [PMC free article: PMC1734480] [PubMed: 11073540]
    Wirth J, Nothwang H-G, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers H-H, Haaf T.: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J. Med. Genet. 36:271-278, 1999. [PMC free article: PMC1734345] [PubMed: 10227392]
    Case 6:
    The patient has Moebius syndrome.
    Aberration: Complex translocation
    MIM#: 157900
    Index Terms: Moebius syndrome
  • Chitayat D, McGillivray B C, Wood S, Kalousek D K, Langlois S, Applegarth D A: Interstitial 7q deletion \46,XX,del(7)(pter to q21.1::q22 to qter)\ and the location of genes for beta-glucuronidase and cystic fibrosis. AJMG 31:655-661, 1988. [PubMed: 3228144]
    At 18 months of age she is developmentally retarded.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Positive band
  • Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nothen M M.: An interstitial deletion of chromosome 7 at band q21: a case report and review. AJMG 134A:12-23, 2005. [PubMed: 15732063]
    The child had overlapping features with Silver Russell syndrome.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
  • Tzschach A, Menzer C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers H-H, Ullman R, Kalscheuer V.: Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. AJMG Part A: 143A: 333-337, 2007. [PubMed: 17230488]
    Ther 42 year old had severe MR, microcephaly, short stature and deafness.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 7q-
    Index Terms: Array CGH
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106587
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