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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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  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    Mother was 27 years old. Case ascertained at 18 weeks because of cleft lip and nuchal translucency. Corpus callosum and hypoplasia was noted after termination.
    The pregnancy was terminated.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 10p+
  • Berend S A, Shaffer L G, Bejjani B A.: Pure trisomy 10p involving an isochromosome 10p. Clin. Genet. 55:367-371, 1999. [PubMed: 10422809]
    46,XX,i(10)(p10),der(14)t(10;14)(q10;p10)de novo
    The patient was 10 months old with several dysmorphic features. A comparison has been made by the authors with 4 most recently studied cases of 10p trisomy.
    Aberration: IC,WT
    Chromosomal Aneuploidy: 10p+
  • Broughton W L, Fine B S, Zimmerman L E: Congenital glaucoma associated with a chromosomal defect. A histologic study. Arch. Ophthalmol. 99:481-486, 1981. [PubMed: 7213170]
    46,XY,del(10p-).&Patient died after 12 days.
    Aberration: Terminal deletion
    Index Terms: Glaucoma
    No band
  • Calabrese G, Franchi P G, Stuppia L, Mingarelli R, Rossi C, Ramenghi L, Marino M, Morizio E, Peila R, Antonucci A, Palka G.: A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. J. Med. Genet. 31:804-806, 1994. [PMC free article: PMC1050128] [PubMed: 7837258]
    The baby died after 40 days due to progressive renal failure.
    Aberration: Ring chromosome
    Index Terms: Aganglionic megacolon, renal hypoplasia
    No band
  • Candy D C A, Hayward A R, Hughes D T, Layward L, Soothill J F: Four families with immunodeficiency and chromosome abnormalities. Arch. Dis. Childhood 54:518-523, 1979. [PMC free article: PMC1545485] [PubMed: 314782]
    mos 45,X,t(10p+;11p-)/46,X,iso(Xq)t(10p+;11p-).
    Aberration: Simple translocation
    No band
  • Elliott D, Thomas G H, Condron C J, Khuri N, Richardson F: C-group chromosome abnormality (?10p-). AJDC 119:72-73, 1970. [PubMed: 5410297]
    46,XX,?del(10)(p1).&46,XX,?del(10)(qter -> p1:).
    Aberration: Terminal deletion
    No band
  • Granata P, Mazzola D, Righi R, Minelli E, Salvatoni A, Baroli P, Maggi F, Casalone R.: Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case. Ann. Genet. 43:45-50, 2000. [PubMed: 10818221]
    Patient was 13 years old.
    46,XY,der t(10;22)(p10;q10)mat. Both parents had normal karyotypes.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 10p+
  • Lansky S, Daniel W L, Fleiszar K: Physical retardation associated with ring chromosome mosaicism: 46,XX,r(10)/45,XX,10-. J. Med. Genet. 14:61-63, 1977. [PMC free article: PMC1013509] [PubMed: 839503]
    Case 210865 in this report.
    Patient was ten years old with retardation of physical development. Parents karyotypes were normal.
    Aberration: Ring chromosome
    No band
  • Petrosky D L, Borgaonkar D S: Segregation analysis in reciprocal translocation carriers. AJMG 19:137-159, 1984. [PubMed: 6496566]
    No band
  • Stene J, Stengel-Rutkowski S: Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations. Hum. Genet. 39:7-13, 1977. [PubMed: 924445]
    Stene J, Stengel-Rutkowski S: Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies. Ann. Hum. Genet. 46:41-74, 1982. [PubMed: 7103412]
    Data from 11 families are analyzed. No significant difference was found for carrier males and females. Risk for offspring with trisomy 10p was 22% and for a phenotypically normal descendent to be a carrier was 71%. This result does not deviate significantly from the theoretical value of 50%. The theoretical basis for the analysis is considered in some detail.
    No band
  • Stone D, Ning Y, Guan X Y, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L.: Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis. Hum. Genet. 98:396-402, 1996. [PubMed: 8792811]
    A three generation family was studied first in 1990 and then in 1995.
    46,XX,der(9)t(9;10)(9qter->9p24::10p14 or 5->10pter)pat.
    The proband was 13 years old with multiple medical problems and dysmorphic features.
    An elegant demonstration of a subtle translocation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 10p+
    No band
  • Wu Y-C, Yu M-T, Chen L-C, Chen C-L, Yang M-L.: Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. AJMG DOI=10.1002/ajmg.a.10007; 117A:278-281, 2003. [PubMed: 12599193]
    Amniotic fluid=47,XX,i(10)(p10)/46,XX[83.3%].,Fibroblasts=47,XX,i(10)(p10)[15]/46,XX[5].
    The pregnancy was terminated.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 10p+
    Index Terms: Arthrogryposis distal, megacisterna magna
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106601
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