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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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  • Arinami T, Kondo I: A Japanese case with an unusual variant of chromosome 16 with an extra C-negative, G-dark segment in the short arm. Jpn. J. Hum. Genet. 33:373-376, 1988. [PubMed: 3204690]
    46,XX and XY,16qh+.
    The proband was slightly retarded and minor dysmorphic features including frontal bossing, flat occiput, depressed nasal bridge, large protuded ears and micrognathia.
    Three generation family data was collected.
    Aberration: Marker chromosome
    No band
  • Colls P, Sandalinas M, Pagidas K, Munne S.: PGD analysis for aneuploidy in a patient heterozygous for a polymorphism of chromosome 16 (16qh-). Prenat. Diag. 24:741-744, 2004. [PubMed: 15386466]
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 16qh-
    Index Terms: PGD
  • Eriksson B, Fraccaro M, Hulten M A, Lindsten J, Thoren C, Tiepolo L: Structural abnormalities of chromosome 18. II. Two familial translocations B/18 and 16/18, ascertained through unbalanced forms. Ann. Genet. 14:281-290, 1971. [PubMed: 5316133]
    Case No. 2 in this report.
    46,XX,-18,+der(18)t(16;18)(q1;q2)pat.&"46,XX,-18,+der(18)t(16;18)(18pter -> 18q2::16q1 -> 16qter)pat."&Meiotic studies on the father of case 2 showed a quadrivalent. Chromosome identification by autoradiography.
    Aberration: Simple translocation
    No band
  • Jalal S M, Law M E, Dewald G W: Inverted duplication involving alpha satellite DNA resulting in a C-negative-band in the qh region of chromosome 16. AJMG 46:351-352, 1993. [PubMed: 8488887]
    Father and an abortus had this polymorphism.
    Aberration: Marker chromosome
    No band
  • Mikelsaar A V N, Tuur S J, Kyaosaar M E: Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20:89-101, 1973. [PubMed: 4785172]
    Aberration: Marker chromosome
    No band
  • Tabet A C, Gosset P, Elghezal H, Fontaine S, Martinovic J, Razavi F E, Romana S, Vekemans M, Morichon-Delvallez N.: Prenatal diagnosis and characterization of an analphoid marker chromosome 16. Prenat. Diag. 24:733-736, 2004. [PubMed: 15386469]
    47,XY,i(16)(q10),+mar.ish der(16)(p13.3p11.2)(16PTEL05+,397B22+,388M20+,D16Z2-).
    Severe growth retardation with several dysmorphic features were found in this 35 week old fetus.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 16p+;16q+
    Index Terms: Analphoid,Extra structurally abnormal chromosome (ESAC)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105608


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