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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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6
  • Aalfs C M, Jacobs M E, Nieste-Otter M A, Hennekam R C M, Hoovers J M N.: Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. Clin. Genet. 49:42-45, 1996. [PubMed: 8721571]
    mos46,XY/47,XY,+r(6)/47,XY,+r(9)/48,XY,+r(6),+r(9)
    The 4 year old boy was evaluated for developmental delay.
    Aberration: Ring chromosome
    No band
  • Abramowicz M J, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley F D, Courtens W, Vamos E.: Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J. Clin. Invest. 94:418-421, 1994. [PMC free article: PMC296325] [PubMed: 7913714]
    46,XX,upd(6)pat.
    The newborn, died 2 weeks after birth, had a mutant form of methylmalonic acidemia and complete absence of insulin-producing beta cells in otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus.
    HLA typing demonstrated paternal isodisomy.
    Aberration: Isodisomy
    Index Terms: Methylmalonic acidemia,Agenesis of Pancreatic Beta cells,Diabetes mellitus
  • Abramsson L, Beckman G, Duchek M, Nordenson I: Chromosomal aberrations and male infertility. J. Urol. 128:52-53, 1982. [PubMed: 7109070]
    46,XY,t(6;12).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    No band
  • Bittencourt M C, Morris M A, Chabod J, Gos A, Lamy B, Fellman F, Antonarakis S E, Plouvier E, Herve P, Tiberghien P.: Fortuitous detection of uniparental isodisomy of chromosome 6. J. Med. Genet. 34:77-78, 1997. [PMC free article: PMC1050851] [PubMed: 9032654]
    Marquis E, Robert J J, Benezech C, Junien C, Diatloff-Zito C.: Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. Eur. J. Hum. Genet. 8:137-140, 2000. [PubMed: 10757646]
    The 9 year old patient had beta thalassemia and was being evaluated for transplant. A paternal isodisomy for 6 was detected.
    Two patients, of 5 years and 12 years of age, were described.
    46,XX,upd(6)pat.
    Aberration: IS,UPD
    MIM#: 601410
    Index Terms: Transient neonatal diabetes mellitus
  • Callen D F, Eyre H J, Ringenbergs M L, Freemantle C J, Woodroffe P, Haan E A: Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. AJHG 48:769-782, 1991. [PMC free article: PMC1682952] [PubMed: 2014800]
    Case 3.
    At 6 months of age the boy had delayed development, seizure disorder, and dysmorphic features.
    Aberration: Ring chromosome
    No band
  • Callen D F, Eyre H J, Ringenbergs M L: A dicentric variant of chromosome 6: characterization by use of in situ hybridization with the biotinylated probe p308. Clin. Genet. 37:81-83, 1990. [PubMed: 2311270]
    46,XY,dic(6).
    Patient was 15 years old with delayed puberty and behavioral problems. Probe D6Z1 or p308 was used.
    Aberration: DI,MA
    No band
  • Cockwell A E, Baker S J, Connarty M, Moore I E, Crolla J A: Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. AJMG DOI=10.1002/ajmg.a.31129; 140A:624-627, 2006. [PubMed: 16470696]
    Fetal skin-47,XY,+6[12]/46,XY[13],upd(6)mat.,Amnio-47,XY,+6[21]/46,XY[11].
    IUD in a 33-year old woman.
    Aberration: Uniparental disomy
    Index Terms: AVS.
  • Das S, Lese C M, Song M, Jensen J L, Wells L A, Barnoski B L, Roseberry J A, Camacho J M, Ledbetter D H, Schnur R E.: Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. AJHG 67:1586-1591, 2000. [PMC free article: PMC1287936] [PubMed: 11038325]
    46,XY,partial upd(6)pat.,The patient, who had a partial UPD6pat involving distal 6q from 6q24->qter, died on day 14 from sepsis.
    Aberration: Uniparental disomy
    MIM#: 601410
    Index Terms: Neonatal diabetes,Macroglossia
    No band
  • Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann H A.: Uniparental disomy: clinical indications for testing in growth retardation. Europ. J. Pediat. 161:305-312, 2002. [PubMed: 12029448]
    In newborns with growth retardation and (T)NDM, searching for UPD6 is indicated. The genetic finding of pUPD6 allows prediction of a transient rather than permanent course of diabetes mellitus and no increased recurrence risk for TNMD in subsequent pregnancies had to be given due to the mitotic origin of the disturbance.
    Aberration: Uniparental disomy
  • Fryns J P, Kleczkowska A, Van den Berghe H: Familial transmission of autosomal whole arm translocation. J. Med. Genet. 25:783-784, 1988. [PMC free article: PMC1051589] [PubMed: 3236360]
    Individuals II-1 and II-4:46,XX,t(6p10q;6q10p).
    There was evidence of fetal wastage.
    Aberration: Whole-arm translocations
    No band
  • Gardner R J, Robinson D O, Lamont L, Shield J P H, Temple I K.: Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clin. Genet. 54:522-525, 1998. [PubMed: 9894800]
    The authors report fifth case of upd(6)pat associated with classic TNDM.
    4/16 patients with classical TNDM have UPD 6.
    Aberration: Uniparental disomy
    MIM#: 601410
    Index Terms: Neonatal diabetes mellitus,UPD(6)pat
  • Goldman A S H, Hulten M A: Chromosome in situ suppression hybridisation in human male meiosis. J. Med. Genet. 29:98-102, 1992. [PMC free article: PMC1015847] [PubMed: 1613773]
    46,XY,t(6;7).
    Aberration: Reciprocal translocation
    Index Terms: Meiotic ... studies,Suppression hybridisation
    No band
  • Hastings R J, Nisbet D L, Waters K, Spencer T, Chitty L S.: Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature. Prenat. Diag. 19:436-445, 1999. [PubMed: 10360512]
    Case 11:
    47,XX,+mar/46,XX.ish r(6)(D6Z1+)mat
    Ascertained because of abnormal serum biochemistry in a 32 year old mother. Child not dysmorphic and normal at 6 months.
    Aberration: Ring chromosome
    Index Terms: Extra structurally abnormal chromsomes (ESACs)
  • Hurst J A, Meinecke P, Baraitser M: "Balanced t(6;8)(6p8p;6q8q) and the CHARGE association." J. Med. Genet. 28:54-55, 1991. [PMC free article: PMC1016750] [PubMed: 1999835]
    46,XX,t(6;8)(6p8p;6q8q)de novo.
    Aberration: Whole-arm translocations
    MIM#: 214800
    No band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    46,XX,t(6p14p)t(6q14q).
    M. R. C. Registry No. K138-3-71 in this report.
    46,XX,der(6)der(14)t(6p14p)t(6q14q)mat.
    Aberration: Whole-arm translocations
    No band
  • Kosztolanyi G, Bajnoczky K, Mehes K: Balanced chromosome rearrangements and abnormal phenotype. Acta Paediat. Hung. 31:397-402, 1991. [PubMed: 1790022]
    Case No. 2.
    t(6;12)pat.
    Some features of Turner syndrome were present.
    "The most plausible explanation seems to be a by chance coincidence........".
    Aberration: Simple translocation
    No band
  • Lopez-Gutierrez A U, Riba L, Ordonez-Sanchez M L, Ramirez-Jimenez S, Cerrillo-Hinojosa M, Tusie-Luna M T.: Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. J. Med. Genet. 35:1014-1019, 1998. [PMC free article: PMC1051514] [PubMed: 9863599]
    47 patients with 21-hydroxylase deficiency were screened.
    Family 9:46,XX,upd(6)pat
    Aberration: Uniparental disomy
    MIM#: 201910
    Index Terms: Steroid 21-hydroxylase deficiency, upd(6)pat
  • Mungall A J, Palmer S A, Sims S K, Edwards C A, Ashurst J L, Wilming L, Jones M C, Horton R, Hunt S E, Scott C E, Gilbert J G R, Clamp M E, Bethel G, Milne S, Ainscough R, Almeida J P, Ambrose K D, Andrews T D, Ashwell R I S, Babbage A K, Bagguley C L, Bailey J, Banerjee R, Barker D J, Barlow K F, Bates K, Beare D M, Beasley H, Beasley H, Beasley O, Bird C P, Blakey S, Bray-Allen S, Brook J, Brown A J, Brown J Y, Burford D C, Burrill W, Burton J, Carder C, Carter N P, Chapman J C, Clark S Y, Clark G, Clee C M, Clegg S, Cobley V, Collier R E, Collins J E, Colman L K, Corbey N R, Coville G J, Culley K M, Dhami P, Davies J, Dunn M, Earthrowl M E, Ellington A E, Evans K A, Faulkner L, Francis M D, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori M J R, Gilby L M, Gillson C J, Glithero R J, Grafham D V, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls K S, Hammond S, Harley J L, Hart E A, Heath P D, Heathcott R, Holmes S J, Howden P J, Howe K L, Howell G R, Huckle E, Humphray S J, Humphries M D, Hunt A R, Johnson C M, Joy A A, Kay M, Keenan S J, Kimberley A M, King A, Laird G K, Langford C, Lawlor S, Leongamornert D A, Leversha M, Lloyd C R, Lloyd D M, Loveland J E, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen G L, Matthews L, McCann O T, McLaren S J, McLay K, McMurray A, Moore M J F, Mullikin J C, Niblett D, Nickerson T, Novik K L, Oliver K, Overton-Larty E K, Parker A, Patel R, Pearce A V, Peck A I, Phillimore B, Phillips S, Plumb R W, Porter K M, Ramsey Y, Ranby S A, Rice C M, Ross M T, Searle S M, Sehra H K, Sheridan E, Skuce C D, Smith S, Smith M, Spraggon L, Squares S L, Steward C A, Sycamore N, Tamlyn-Hall G, Tester J, Theaker A J, Thomas D W, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis J M, West A P, White S S, Whitehead S L, Whittaker H, Wild A, Willey D J, Wilmer T E, Wood J M, Wray P W, Wyatt J C, Young L, Younger R M, Bentley D R, Coulson A, Durbin R, Hubbard T, Sulston J E, Dunham I, Rogers J, Beck S.: The DNA sequence and analysis of human chromosome 6. Nature 425:805-811, 2003. [PubMed: 14574404]
  • Prando C, Boisso n-Dupuis S, Grant A V, Kong X-F, Bustamante J, Feinberg J, Chapgier A, Rose Y, Janniere L, Rizzardi E, Zhang Q, Shanahan C M, Viollet L, Lyonnet S, Abel L, Ruga E M, Casanova J-L.: Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-delta receptor 1 deficinecy. AJMG PartA: 152A: 622-629, 2010. [PMC free article: PMC2946788] [PubMed: 20186794]
    Patient born in 2002 and followed till 6 years of age.
    Aberration: Uniparental disomy
    MIM#: 209950
    Index Terms: Mendelian susceptibility to mycobacterial disease (MSMD).
  • Smith M, Hirschhorn K: Location of the genes for human heavy chain immunoglobulin to chromosome 6. PNAS 75:3367-3371, 1978. [PMC free article: PMC392777] [PubMed: 98768]
    No band
  • Squire J, Phillips R A, Boyce S, Godbout R, Rogers B, Gallie B L: Isochromosome 6p, a unique abnormality in retinoblastoma: verification by standard staining techniques, new densitometric methods, and somatic cell hybridization. Hum. Genet. 66:46-53, 1984. [PubMed: 6583158]
    RB tumor cells show a chromosome which is either a 6p or 17p isochromosome.
    Aberration: Isochromosome
    MIM#: 180200
    Index Terms: Retinoblastoma
    No band
  • Therkelsen A J, Jensen P K A, Hertz J M, Smidt-Jensen S, Hahnemann N: Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester. Prenat. Diag. 8:19-31, 1988. [PubMed: 3344263]
    Sample No. 100.
    46,XY,-20,+der(20)t(6;20).
    Sample No. 19.
    mos46,XX,t(6p;22q)/46,XX.
    Aberration: Simple translocation
    No band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    Study done in couples with abortions or stillbirths.
    46,XX,inv(6).
    No band
  • Wassman E R, Cheyovich D L, Nakahara Y: """Possibly"" de novo translocations: prenatal risk counseling." Am. J. Obstet. Gynecol. 161:698-702, 1989. [PubMed: 2476932]
    t(6;22).
    Normal newborn male.
    t(6;8).
    Aberration: Simple translocation
    No band
  • Whiteford M L, Narendra A, White M P, Cooke A, Wilkinson A G, Robertson K J, Tolmie J L.: Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. J. Med. Genet. 34:167-168, 1997. [PMC free article: PMC1050875] [PubMed: 9039998]
    The infant had IUGR and transient neonatal diabetes but no dysmorphic features nor any congenital anomalies. pUPD6 was demonstrated using the CAG repeat for spinocerebellar ataxia type 1, D6S294, D6S292, D6S975, and D6S305 markers.
    Aberration: Uniparental disomy
    MIM#: 601410
    Index Terms: Diabetes transient neonatal
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106347
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