NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details


  • Same entry as in 09q342 (Aurias et al, 1978).

  • Same entry as in 14p110 (Bartsch-Sandhoff and Hieronimi, 1979).

  • Same entry as in 01p340,05p130 (Boue and Gallano, 1984).

  • 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]
    Aberration: Inversion pericentric
    No band
  • Docherty Z, Hulten M A, Honeyman M M: De novo tandem duplication 17p11 to cen. J. Med. Genet. 20:138-142, 1983. [PMC free article: PMC1049020] [PubMed: 6842549]
    46,XX,dup(17p11).&46,XX,dic(17)(pter -> q111::p12 -> qter)mat.
    Aberration: Dicentric chromosome
    No band
  • Same entry as in 14p110 (Feldman et al, 1982).

  • FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]
    46,XX,t(1;17)(17pter -> 17p11::1pter -> 1qter)del(17qter -> 17p11:).
    Aberration: Simple translocation
    No band
  • Same entry as in 0Xq220 (Jayakar P et al, 1990).

  • Same entry as in 05p150 (Jinno et al, 1982).

  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 18:
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
  • Martsolf J T, Larson L, Jalal S M, Wasdahl W A, Miller R, Kukolich M K: Complete trisomy 17p. A relatively new syndrome. Ann. Genet. 31:172-174, 1988. [PubMed: 3066280]
    46,XX,dup(17)(17qter -> 17p13::17p13 -> 17p11).
    Patient had MCA/MR and died at the age of 10 months following surgery.
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    No band
  • Moghe M, Patel Z M, Peter J J, Ambani L M: Cytogenetic studies in a selected group of mentally retarded children. Hum. Genet. 58:184-187, 1981. [PubMed: 6456981]
    Patient RD was 6 months old.
    46,XY,del(17)(qter -> p11).
    Aberration: Terminal deletion
    No band
  • Patil S R, Bartley J A: Interstitial deletion of the short arm of chromosome 17. Hum. Genet. 67:237-238, 1984. [PubMed: 6745947]
    Patient A.S. was 4 years old and no major malformations were present but was moderately mentally retarded.
    Aberration: Interstitial deletion
    No band
  • Same entry as in 04q310 (Portnoi M F et al, 1988).

  • Same entry as in 10q263 (Rethore et al, 1983).

  • Wiktor A, Van Dyke D L, Weiss L: Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1). AJMG 45:22-24, 1993. [PubMed: 8418653]
    Case B90-9853.
    The patient had familial NF1, short stature, developmental delay and the de novo chromosome abnormality.
    Aberration: Ring chromosome
    MIM#: 162200
    Index Terms: Neurofibromatosis ... type 1
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106988
PubReader format: click here to try


  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to pubmed

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...