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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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  • Bogart M H, Bradshaw C, Jones O W: Prenatal diagnosis of euchromatic 16p+ heteromorphisms in two unrelated families. Prenat. Diag. 11:417-418, 1991. [PubMed: 1924183]
    Aberration: Marker chromosome
    No band
  • Bryke C R, Breg W R, Potluri V R, Yang-Feng T L: Duplication of euchromatin without phenotypic effects: a variant of chromosome 16. AJMG 36:43-44, 1990. [PubMed: 2333906]
    Aberration: Marker chromosome
    No band
  • Croci G, Camurri L, Franchi F: A familial case of chromosome 16p variant. J. Med. Genet. 28:60, 1991. [PMC free article: PMC1016752] [PubMed: 1999838]
    46,XX and XY,16p+.
    The additional proximal to the centromere material stained positively with GTG and QFQ banding techniques; and negatively with RBA, CBG and DA-DAPI banding techniques.
    Aberration: Marker chromosome
    No band
  • Jalal S M, Schneider N R, Kukolich M K, Wilson G N: Euchromatic 16p+ heteromorphism: first report in North America. AJMG 37:548-550, 1990. [PubMed: 2260607]
    Two patients are reported.
    Aberration: Marker chromosome
    No band
  • Neidengard L, Sparkes R S: Ring chromosome 16. Hum. Genet. 59:175-177, 1981. [PubMed: 7327577]
    Patient D.H. was 33 years old with mental, motor and growth defects. Reported to be the first case of a r(16).
    Aberration: Ring chromosome
    Index Terms: Motor retardation
    No band
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 87-74.
    No band
  • Pinel I, Diaz de Bustamante A, Urioste M, Felix V, Ureta A, Martinez-Frias M L: An unusual variant of chromosome 16. Two new cases. Hum. Genet. 80:194, 1988. [PubMed: 3169745]
    Cases 1 and 2.
    46,XX and XY,16p+.
    Case 1 was a phenotypically normal male who had a daughter with trisomy 18. Case 2 was a phenotypically normal female who had a child with presumptive diagnosis of trisomy 13, but the father had a t(13q14q) translocation.
    Negative by CBG banding. Giemsa GTG banding showed three bands in 16p.
    Aberration: Marker chromosome
    No band
  • Reeders S T, Breuning M H, Davies K E, Nicholls R D, Jarman A P, Higgs D R, Pearson P L, Weatherall D J: A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544, 1985. [PubMed: 2995836]
    Index Terms: Adult polycystic kidney disease
    No band
  • St+¬phane P, Genevi+¬ve L.: Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat. Diag. 19:181-182, 1999. [PubMed: 10215081]
    46,XX and XY, der(16ph+)pat.,Propositus with supernumerary r(16).
    Both the twins with 16pH+ and the r(16) are growing within normal limits.
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 16p+
  • Thompson P W, Roberts S H: A new variant of chromosome 16. Hum. Genet. 76:100-101, 1987. [PubMed: 3570297]
    Thompson P W, Roberts S H, Rees S M: Replication studies in the 16p+ variant. Hum. Genet. 84:371-372, 1990. [PubMed: 2307461]
    A family with an additional C-band negative segment in the proximal region of the short arm is described, in addition to three other cases.
    46,XX or XY,16p+.
    The extra chromosome material on the short arm was lightly stained, therefore was believed to be late replicating. The techniques used were GTG, CBG, and RBG. The region was stained like the late replicating X and such other regions.
    Aberration: Marker chromosome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106467
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