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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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170000

17
  • Engelen J J M, Loots W J G, Motoh P C C, Moog U, Hamers G J H, Geraedts J P M.: Marker chromosome identification by micro-FISH. Clin. Genet. 49:242-248, 1996. [PubMed: 8832132]
    Patient C:
    mos46,XX(12%)/47,XX,+marker 17(40%)/48,XX,+marker 17,+marker 17(48%).
    The patient was 4 years old with growth retardation, delayed speech development, and muscle weakness predominantly of the distal lower limbs.
    No band
  • Faed M J W, Robertson J, Field M A S, Mellon J P: A chromosome survey of a hospital for the mentally subnormal. Clin. Genet. 16:191-204, 1979. [PubMed: 158447]
    Case 14 in this report.
    46,XX/46,XX,i(17q).
    Aberration: Isochromosome
    No band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case VIc-2 from Perng et al (1990).
    mos46,XY/46,XY,i(17p)(26.9%).
    Abnormal male abortus with low-set ears, malrotation of intestine.
    Mosaicism confirmed in fetal skin and cord blood.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 17p+
    No band
  • Kanda N: Banding pattern observed in human chromosomes by the modified BSG technique. Hum. Genet. 31:283-292, 1976. [PubMed: 60275]
    The technique seems to elicit specific banding pattern in chromosomes 17 and 19.
    No band
  • Matera A G, Marks J.: Complex rearrangements in the evolution of hominoid chromosome XVII. J. Hum. Evolution 24: 233-238, 1993.
    On the basis U 2 cluster gene mapping by FISH on to the chromosomes of the great apes it is believed that one translocation and three inversions have taken place.
    Index Terms: Hominoid chromosome XVII
    No band
  • Rosenberg C, Borovik C L, Canonaco R S, Sichero L C, Queiroz P S, Vianna-Morgante A M.: Identification of a supernumerary marker derived from chromosome 17 using FISH. AJMG 59:33-35, 1995. [PubMed: 8849006]
    Patient S.S.S.
    47,XX,+r(17)de novo.
    Patient was 15 years old with several minor stigmata including short stature.
    The probe used was p17H8 developed by Waye and Willard (1986).
    Chromosomal Aneuploidy: 17p+,17q+
    Index Terms: Supernumerary marker
    No band
  • Salamanca F, Armendares S: Identification of isochromosome 17 in a girl with mental retardation and congenital malformations. Ann. Genet. 18:235-238, 1975. [PubMed: 1083191]
    46,XX,i(17q).
    Aberration: Isochromosome
    No band
  • Same entry as in 150000,160000 (Schwanitz et al, 1989).
  • Shabtai F, Shalev A, Chemke J, Halbrecht I, Elian E: Pure trisomy 17p in 60% of the cells. Hum. Genet. 52:263-268, 1979. [PubMed: 535886]
    mos 46,XX/47,XX,+17cen -> 17pter.
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106232
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