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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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20+

  • Same entry as in 46,XY,-13,del(18p),+20 (Halushka et al, 2005).
  • Abuelo D N, Barsel-Bowers G, Zartler A S: Follow-up of infants with amniotic fluid trisomy 20 mosaicism. AJMG 24:475-481, 1986. [PubMed: 3728566]
    Three patients have been followed and all indications are that there is normal growth and psychomotor development.
  • Baldinger S, Millard C, Schmeling D, Bendel R P: Prenatal diagnosis of trisomy 20 mosaicism indicating an extra embryonic origin. Prenat. Diag. 7:273-276, 1987. [PubMed: 3588544]
    A phenotypically normal female was delivered.
  • Batista D A S, Escallon C, Blakemore K J, Stetten G.: An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat. Diag. 15:123-127, 1995. [PubMed: 7784362]
    Stetten G, Escallon C S, South S T, McMichael J L, Saul D O, Blakemore K J.: Reevaluating confined placental mosaicism. AJMG DOI=10.1002/ajmg.a.30363;131A:232-239, 2004. [PubMed: 15529330]
    Stetten G, Escallon C S, South S T, McMichael J L, Saul D O, Blakemore K J.: Reevaluating confined placental mosaicism. AJMG DOI=, 2004. [PubMed: 15529330]
    mos47,XY,+r(20)/47,XY,+20/46,XY.
    The 16-month-old boy had delayed psychomotor development, dysmorphic features, and failure to thrive.
  • Baty B J, Olson S B, Magenis R E, Carey J C.: Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. AJMG 99:210-216, 2001. [PubMed: 11241492]
    Case 1: Trisomic in 2 amnios 83% and 57%, after birth in urinary sediment 25%, cvs 15% and none in cord blood (30 cells), and skin fibroblasts (50 cells).,Case 2: Trisomic in amnio (90%), urinary sediment (100%), placenta (100%), cord (10%), amniotic membrane (50%), and skin fibroblasts (30%), none in cord blood (100 cells).
    Patient 1 and 2 were 9 and 8 years old, respectively.
  • Brothman A R, Rehberg K, Storto P D, Phillips S E, Mosby R T: Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male. Clin. Genet. 42:47-49, 1992. [PubMed: 1516227]
  • Byrne J, Warburton D, Kline J, Blanc W, Stein Z: Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32:297-315, 1985. [PubMed: 4049288]
  • Carbonell X, Caballin M R, Rubio A, Egozcue J: Trisomy 20 mosaicism. Acta Paed. Scand. 66:787-788, 1977. [PubMed: 920172]
    mos47,XX,+20/46,XX.
    8 month old patient was well developed, pale and obese child with a slight turricephalia, mongoloid slant of the eyes and internal epicanthus. A first report of full blown trisomy 20 and it is suggested that this abnormality may have been missed in others.
    Index Terms: Epicanthal folds,Eye ... mongoloid eye slits,Obesity,Turricephaly ... oxycephaly
  • Djalali M, Steinbach P, Schwinger E, Schwanitz G, Tettenborn U, Wolf M: On the significance of true trisomy 20 mosaicism in amniotic fluid culture. Hum. Genet. 69:321-326, 1985. [PubMed: 3988281]
    Steinbach P, Djalali M, Rolland M O: Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA). Prenat. Diag. 5:163-166, 1985. [PubMed: 3991468]
  • Driggers R W, Bernstein H, Lantz M, Stetten G, Escallon C S, Perlman E, Blakemore K J.: Non-mosaic trisomy 20 presenting at 21 weeks'' gestation as a thoraco-abdominal mass. Prenat. Diag. 21:387-389, 2001. [PubMed: 11360280]
    Amniotic fluid=47,XX,+20 in 15 individual colonies.,Placenta=47,XX,+20[20 cells from each of the 3 cells lines]
    A 31 year old mother was referred at 21+ weeks gestation beacuse of a mass in the abdomen and thorax. The pregnancy was terminated. The fetus had MCA.
  • Ensenauer R E, Shaughnessy W J, Jalal S M, Dawson D B, Courteau L K, Ellison J W.: Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies. AJMG 134A:202-206, 2005. [PubMed: 15690403]
    Blood=46,XY[100].,Skin=47,XY,+20[10% and 13%].
    Patient was 7 years old with skeletal anomalies.
  • Grewal M S, Ridler M A C, Barber J C K: Further examples of trisomy-20 mosaicism in amniotic cell cultures. Prenat. Diag. 5:159-162, 1985. [PubMed: 3991467]
    Case 1.
    mos46,XX/47,XX,+20; pregnancy terminated; fetal tissue cultures showed normal karyotypes.
    Case 2.
    mos46,X,inv(Y)(p11q11)pat/47,X,inv(Y)(p11q11)pat,+20; normal male with a normal karyotype was born.
  • Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    Hassold T J, Warburton D, Kline J, Stein Z: The relationship of maternal age and trisomy among trisomic spontaneous abortions. AJHG 36:1349-1356, 1984. [PMC free article: PMC1684653] [PubMed: 6517056]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Holzgreve W, Golabi M, Bradley J: Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. Clin. Genet. 29:342-344, 1986. [PubMed: 2424648]
    Amniotic fluid cell cultures showed 65% trisomic cells. After 26 months, the child had generalized dysmorphic features.
    mos46,XY/47,XY,+20.
  • Hsieh C-C, Hsu J-J, Lo L-M, Hsieh T-T, Soong Y-K.: Non-mosaic trisomy 20 in cultures of amniotic fluid from a fetus with serious congenital malformation. J. Formos. Med. Assoc. 91:543-544, 1992. [PubMed: 1358335]
    AF=47,XX,+20.,Cord blood=46,XX.
    The newborn died one hour after birth. She had tetralogy of Fallot and Dandy-Walker malformation. The 29 yo mother was being evaluated at the 29th gestational week for IUGR and oligohydramnios.
    Index Terms: Dandy-Walker malformation,Tetralogy of Fallot
  • Hsu L Y F, Kaffe S, Perlis T E: Trisomy 20 mosaicism in prenatal diagnosis-a review and update. Prenat. Diag. 7:581-596, 1987. [PubMed: 3317389]
    Hsu L Y F, Kaffe S, Perlis T E: A revisit of trisomy 20 mosaicism in prenatal diagnosis - an overview of 103 cases. Prenat. Diag. 11:7-15, 1991. [PubMed: 2027857]
    Kardon N B, Lieber E, Davis J G, Hsu L Y F: Prenatal diagnosis of trisomy 20 mosaicism. Clin. Genet. 15:267-272, 1979. [PubMed: 421366]
    A majority (85%) of the 66 cases were grossly normal.
    Three cases of trisomy 20 mosaicism in amniotic fluid cell cultures are discussed. Two of the pregnancies resulted in normal full-term infants. The third pregnancy was terminated and revealed a phenotypically normal fetus. Author''s explanations of these findings include in vitro nondisjunction, culture of extraembryonic tissue, and true fetal mosaicism.
  • McDermott A, Gardner A, Ray B: Trisomy 20 mosaicism in a foetus. Prenat. Diag. 1:147-151, 1981. [PubMed: 7346818]
  • McNerlan S E, Morrison P J, McClure N, Nevin N C.: A supernumerary chromosome 20, identified by FISH, in a male with azoospermia - cause or coincidence? AJMG DOI=10.1002/ajmg.10899; 117A:188-190, 2003. [PubMed: 12567421]
    A 35-year-old was referred for infertility investigation.
    47,XY,+mar.ish der20)(wcp20+,D20Z1+)[80]/46,XY[20].
  • Micale M A, Wolff D J, Dickerman L H, Redline R, Conroy J M, Schwartz S.: Cytogenetic and molecular genetic characterization of trisomy 20 mosaicism in fetal blood and tissues. Prenat. Diag. 16:893-897, 1996. [PubMed: 8938057]
    Patient D.R.
    mos47,XY,+20/46,XY( range was 0%-98% in different tissues: amniotic fluid, chorionic villi, fetal blood, and skin).
    Abnormal AFP, nuchal fold thickening was found.
    It is suggested that mosaic trisomy 20 can be embryonic in origin and examination of fetal blood should be considered.
  • Morales C, Cuatrecasas E, Mademont-Soler I, Clusellas N, Peruga E, Catala V, Garrido C, Mila M, Soler A, Sanchez A.: Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues. Europ. J. Med. Genet. 53: 197-200, 2010. [PubMed: 20350623]
    Pregnancy was terminated but no major malformations were found.
  • Myers T L, Prouty L A: Non-mosaic trisomy 20 in amniotic fluid cultures with minor anomalies in the fetus. Clin. Genet. 35:233-236, 1989. [PubMed: 2714012]
  • Nevin N C, Nevin J, Thompson W: Trisomy 20 mosaicism in amniotic fluid cell culture. Clin. Genet. 15:440-443, 1979. [PubMed: 445867]
    mos47,XX,+20/46,XX.,In this report trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted fetus.
  • Nisani R, Chemke J, Rappaport S, Felsenburg T: Genetic counselling for trisomy 20 mosaicism in amniotic fluid cell cultures. Acta Obst. Gynecol. Scand. 63:273-275, 1984. [PubMed: 6730946]
    "...trisomic cells might originate from epithelial cells..." "...it does not justify interruption of pregnancy....".
  • Pallister P D, Herrmann J, Meisner L F, Inhorn S L, Opitz J M: Trisomy-20 syndrome in man. Lancet 1:431, 1976. [PubMed: 55704]
    50% and 30% of fibroblasts in two patients (37 and 19 years old) showed trisomy and lymphocytes had normal karyotypes.
    This interpretation has been revised. See Pallister et al, under 120000.
  • Park J P, Moeschler J B, Rawnsley E, Berg S Z, Wurster-Hill D H: Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn. Prenat. Diag. 9:501-504, 1989. [PubMed: 2771888]
    mos46,XY,47,XY,+20 in amniotic fluid cultures, foreskin cultures, and placental cells.
  • Pinto M R, Fonseca e Silva M L, Aguiar J, Quelhas I, Lima M R.: Supernumerary ring chromosome 20 in a mother and her child. AJMG DOI=10.1002/ajmg.a.30532; 133A:193-196, 2005. [PubMed: 15666311]
    Child=47,XY,+r(?)[25]/46,XY[37].ish r(20)(p12q10)(wcp20+).,skin=47,XY,+r(20)[11]/46,XY[14].,Mother, blood=47,XX,+r(20)[8]/46,XX[42].
    The 14 month old was referred because of developmental delay and some dysmorphic features. Mother had a borderline IQ and some dysmorphic features.
  • Punnett H H, Kistenmacher M L: Confirmation of prenatally ascertained trisomy 20 mosaicism. Prenat. Diag. 10:136-137, 1990. [PubMed: 2343024]
  • Robinson W P, Bernasconi F, Lau A, McFadden D E.: Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. AJMG 84:34-42, 1999. [PubMed: 10213044]
    7/89 cases:
    47,XX,+20 and 47,XY,+20.
    Index Terms: CPM,Imprinting
  • Rodriguez M L, Luthy D, Hall J G, Norwood T H, Hoehn H: Amniotic fluid cell mosaicism for presumptive trisomy 20. Clin. Genet. 13:164-168, 1978. [PubMed: 637912]
    Patients 1-UW-AC-322 and UW-AC-472 in this report. Fetal or post natal tissues were normal.
  • Sirchia S M, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi M G, Simoni G.: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat. Diag. 18:201-206, 1998. [PubMed: 9556035]
    Case No. 8:
    CVS-Dir. (cytotrophoblasts)=47,XY,+20[29].,Amniotic fluid=46,XY[35].,Peripheral blood=46,XY[40].
    Markers used were: D20S66, D20S75, D20S109, and D20S119.
    Index Terms: CPM,UPD
  • Smidt-Jensen S, Lind A M, Permin M, Zachary J M, Lundsteen C, Philip J: Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies. Prenat. Diag. 13:723-740, 1993. [PubMed: 8284290]
    Case No. 25:
    mos46,XX/47,XX,+20 in various tissues in different proportions.
    Autopsy showed no abnormalities.
    Index Terms: CVS
  • Tolmie J L, Ferguson-Smith M E, Gilmore D H, Ferguson-Smith M A: Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism. Prenat. Diag. 7:597-601, 1987. [PubMed: 3684964]
  • Van Dyke D L, Roberson J R, Babu V R, Weiss L, Tyrkus M: Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts. Prenat. Diag. 9:601-602, 1989. [PubMed: 2798346]
  • Vanni R, Licheri S: Clonal cytogenetic changes in atherosclerotic plaques including trisomy 20. Dis. Markers 9:81-85, 1991. [PubMed: 1782748]
    Case No. 7.
    mos48,XY,+2mar/49,XY,+20,+2mar.
    Index Terms: Atherosclerotic plaques
  • Vejerslev L O, Borlum K G, Jensen N K, Mikkelsen M: Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin. Clin. Genet. 27:263-268, 1985. [PubMed: 2580654]
  • Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen M B.: Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular nalaysis. Europ. J. Hum. Genet. 10:694-698, 2002. [PubMed: 12404100]
    mos46,XX,+20/46,XX,upd(20)mat with varying degree of mosaicism in different tissues.
    At 9 months of age, moderate psychomotor retardation, and some dysmorphic features were noted.
  • Wallerstein R, Twersky S, Layman P, Kernaghan L, Aviv H, Pedro H F, Pletcher B.: Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism. AJMG 137A:94-97, 2005. [PubMed: 16007609]
    46,XX[59]/47,XX,+20[4].
    A 10 year follow-up in a patient with developmental delay.
    FISH in urinary sediment showed 13% trisomy.
  • Warren N S, Soukup S, King J L, Dignan P St J.: Prenatal diagnosis of trisomy 20 by chorionic villus sampling (cvs): a case report with long-term outcome. Prenat. Diag. 21:1111-1113, 2001. [PubMed: 11787033]
    47,XY,+20 in cvs, placenta.,mos47,XY,+20/46,XY in skin.,46,XY in blood.
    The 8 3/4 year old otherwise normal patient had hypomelanosis of Ito.
    Index Terms: Hypomelanosis of Ito
  • Willis M J H, Bird L M, Dell''Aquilla M, Jones M C.: Expanding the phenotype of mosaic trisomy 20. AJMG Part A: 146A: 330-336, 2008. [PubMed: 18203170]
    47,XX,+20 in >90% (amnio).
    Patint 2: Despite limitations the 11 year-old is a motivated ballet dancer!
    Patient 1:skin=47,XX,+20[18]/46,XX[2].
    The 15 year old was being evaluated for back pain and stiffness.
    Patient 3=
    47,XY,+20[10]/46,XY[10]-placenta;amnio-47,XY,+20 in >70%.
    The 10 year old had some medical problems and delayed social and emotional development.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105959
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