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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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16p131

16p13.1
  • de Pater J, Van der Sijs-Bos C, Prins M, Derks J, Albrechts J, Engelen J.: Prenatal identification of a merker chromosome 16 by chromosome microdissection and reverse FISH. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2005.12.006; 49: 306-312, 2006. [PubMed: 16461028]
    47,XY,+mar.ish der(16)(p13.1q12.2)[6]/46,XY[6].
    Amniocentesis was performed because of advanced maternal age (39) and an increased fetal nuchal translucency thickness in the week 17 of pregnancy.
    Chromosomal Aneuploidy: 16p+;16q+
    Index Terms: SMC
  • Hebebrand J, Martin M, Korner J, Roitzheim B, de Braganca K, Werner W, Remschmidt H: Partial trisomy 16p in an adolescent with autistic disorder and Tourette''s syndrome. AJMG (Neuropsychiatric Genet.) 54:268-270, 1994. [PubMed: 7810587]
    Nelson E C.: No evidence of partial trisomy 16p in an autistic calender savant with Tourette syndrome. AJMG (Neuropsychiat. Genet.) 74:450, 1997. [PubMed: 9259384]
    Patient T.
    46,XY,dup(16)(p13.1->pter)de novo.
    Aberration: Duplication
    MIM#: 137580
    Chromosomal Aneuploidy: 16p+
    Index Terms: Tourette syndrome
    Negative band
  • Ionasescu V V, Patil S R, Hart M, Rhead W, Smith W: Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality. AJMG 26:189-194, 1987. [PubMed: 3812561]
    Nicholls R D, Jonasson J A, O''D McGee J, Patil S R, Ionasescu V V, Weatherall D J, Higgs D R: High resolution gene mapping of the human alpha globin locus. J. Med. Genet. 24:39-46, 1987. [PMC free article: PMC1049854] [PubMed: 2879933]
    46,XX,inv(16)(p13.1q22).&46,XY,rec(16)dup p(p13.1 -> p13.3)def q(q22 -> q24), inv(16)(p13.1q22)mat.
    Aberration: Inversion pericentric
    MIM#: 141800
    Negative band
  • Schinzel A, Kotzot D, Brecevic L, Robinson W P, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B.: Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. Europ. J. Hum. Genet. 5:308-314, 1997. [PubMed: 9412788]
    mos46,XY,der(1)t(1;16)(p36.3;p13.1)de novo/46,XY
    The 2 year old patient was short, microcephalic and devlopmentally retarded.
    Aberration: UPD,ST
    Chromosomal Aneuploidy: 16p+
    No band
  • Sommer A, Pastore M, Wenger G.: Trisomy 16p: A longitudinal profile and photo essay. AJMG 140A:174-179, 2006. [PubMed: 16353251]
    46,XY,-2,+der(2)t(2;16)(q37.3;p13.1)mat.
    The patient''s long history of over 2 decades has been well documented to demonstrate the changing phenotype such as a round face into a rather elongated one and the micrognathia to a protruding mandible.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p+;2q-
  • Same entry as in 07q112,10q263 (Warburton D, 1991).
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106831
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