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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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  • Doyle C T: The cytogenetics of 90 patients with idiopathic mental retardation/malformation syndromes and of 90 normal subjects. Hum. Genet. 33:131-146, 1976. [PubMed: 939565]
    Case 137 (KH 161160) in this report.
    46,XX or XY,19qh+.&Maternal grandmother, mother and two of three half sibs had the same unusual chromosome 19.
    Aberration: Marker chromosome
    No band
  • Ghaffari S R, Boyd E, Connor J M, Jones A M, Tolmie J L.: Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation. J. Med. Genet. 35:836-840, 1998. [PMC free article: PMC1051460] [PubMed: 9783708]
    The patient was 71 years old with mental handicap in a residential care facility for 55 years.
    Karyotyping was initially done in 1976, then in 1986 and followed by these FISH, WCP and CGH studies.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 19q+
  • 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 143.
    46,XY,del(19)del(D19S414, PAC probe 23036)pat.
    The child had hypotonia, developmental delay, and visual problems.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 19q-
    No band
  • Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
    Patient R.-L.S. was 33 years old with cleft palate, anomalous feet, dysmorphic face.
    Index Terms: Cleft lip/palate,Facial dysmorphism,Foot ... anomalies
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106157
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