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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Astrin K H, Arredondo-Vega F X, Desnick R J, Smith M: Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8. Ann. Hum. Genet. 46:125-133, 1982. [PubMed: 7114790]
    MIM#: 138200
    No band
  • Baldwin E L, May L F, Justice A N, Martin C L, Ledbetter D H.: Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic counseling issues. AJHG 82: 398-410, 2008. [PMC free article: PMC2427313] [PubMed: 18252220]
    Bettio D, Baldwin E L, Carrozzo R, Vignoli A, May L, Venci A, Ledbetter D H.: Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism. AJMG Part A: 146A: 247-250, 2008. [PubMed: 18076101]
    Index Terms: SMC(8)
  • Batanian J R, Huang Y, Gottesman G S, Grange D K, Blasingame A V.: Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromsome arm painting. AJMG 90:276-282, 2000. [PubMed: 10710223]
    Patient 1 was evaluated at the age of 5 years, because of attention deficit disorder, seizures, and developmental delay. Patient 2 was noted to have total anomalous pulmonary venous return. She had minor dysmorphic features. Patient 3 was detected at prenatal ultrasound because of hydrocephalus.
    Patient 1=47,XY,+r(8)[30]/46,XY[20].,Patient 2=47,XX,+r(8)[50].,Patient 3=47,XX,+r(8)[8]/46,XX[24].
    FISH and CAP (chromosome arm painting) showed involvement of only the short arm of chromosome 8 in the supernumerary marker chromosome, suggesting a U-type exchange mechanism.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8p+
  • Benlian P, Foubert L, Gagne E, Bernard L, De Gennes J L, Langlois S, Robinson W, Hayden M. : Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. AJHG 59:431-436, 1996. [PMC free article: PMC1914726] [PubMed: 8755931]
    The patient was 5.5 years old. Chylomicronemia was discovered at 1 mo of age. Father was heterozygous for the LPL gene mutation and the proband was found to be homozygous for 17 haplotype markers containing the paternally derived LPL gene.
    An elegant demonstration of UPD which also suggests that normal development can occur with two paternally derived copies of chromosome 8.
    Aberration: Isodisomy
    MIM#: 238600
    Index Terms: Lipoprotein Lipase deficiency
  • Chudley A E, Zheng H Z, Pabello P D, Shia G, Wang H C: Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization. AJMG 16:89-97, 1983. [PubMed: 6195920]
    Rothenmund H, Chudley A E, Dawson A J.: Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update. AJMG 72:339-342, 1997. [PubMed: 9332666]
    The father II-2:mos47,XY,+mar[10].ish der(8)(wcp8+)/46,XY,[90].,Daughters III-1 and III-2:47,XX,+mar.ish der98)(wcp8+).
    A follow up is given on these patients who were in their teens and on the father.
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  • Coco R, Penchaszadeh V B: Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J. Ped. 89:325 (Abstr.), 1976.
    Aberration: Simple translocation
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  • Daniel A, Malafiej P.: A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. AJMG 117A:212-222, 2003. [PubMed: 12599184]
    Case 2=47,XX,+r(8)[34%]/46,XX.
    Infertile retarded female (IQ80-85), central obesity, and short 159 cm.
    Case 3=47,XX,+r(8)[27%]/46,XX.
    Apparently normal female, mother of child with unrelated del(4p).
    Case 6=47,XX,+(8)[54%]/46,XX.
    Developmental delay, severe intellectual delay, mild ataxia, and dysmorphic facies.
    Aberration: Ring chromosome
  • Engelen J J M, Schrander-Stumpel C T R M, Theunissen P M V M, Vaes-Peeters G, Albrechts J C M, Hamers A J H.: Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation. AJMG DOI=10.1002/ajmg.a.10267; 118A:274-278, 2003. [PubMed: 12673659]
    47,XY,+mar.ish der(8)(D8Z1+)[75]/46,XY[25].
    The 9 year old was referred because of growth retardation.
  • Fisher A M, Barber J C K, Crolla J A, James R S, Lestas A N, Jennings I, Dennis N R: Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. AJMG 47:100-105, 1993. [PubMed: 8368238]
    mos46,XX/47,XX,+i(8p)(69/31)-lymphocytes.&mos46,XX/47,XX,+i(8p)(30/38)-skin fibroblasts.
    Patient was 5 years old with MCA.
    There was twofold increase in red cell glutathione reductase activity.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
    Index Terms: Glutathione reductase,Plasminogen
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  • Gravholt C H, Friedrich U.: Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. AJMG 56:106-111, 1995. [PubMed: 7747772]
    One case No. 38587:
    Normal appearance.
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  • Griffin D K, Millie E A, Redline R W, Hassold T J, Zaragoza M V.: Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. AJMG 72:297-301, 1997. [PubMed: 9332658]
    ID No. A268:
    Cytotrophoblast (direct)=46,XX(5).,Extraemb mesoderm (culture)=mos46,XX(3)/46,XX,i(8q)(5).
    Aberration: Isochromosome
    Index Terms: CPM
    No band
  • Jalal, S M, Law M E, Lindor N M, Thompson K J, Sekhon G S.: Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders. Mayo Clin. Proc. 76:16-21, 2001. [PubMed: 11155407]
    Case 5:
    The 41 year old patient with a possibility of fragile-X syndrome.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8+
    Index Terms: M-FISH
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  • Kaffe S, Hsu L Y F: Maternal serum alpha-fetoprotein screening and fetal chromosome anomalies: is lowering maternal age for amniocentesis preferable? AJMG 42:801-806, 1992. [PubMed: 1372793]
    Patient No. C-5.
    46,XY,t(8;10)de novo.
    Aberration: Simple translocation
    Index Terms: MSAFP
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  • Karanjawala Z E, Kaariainen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins F S.: Complete maternal isodisomy of chromosome 8 in an individual with an early-onset Ileal carcinoid tumor. AJMG 93:207-210, 2000. [PubMed: 10925383]
    The 39 year old participated in genome-wide screening program for type 2 diabetes.
    Normal growth and development.
    Aberration: Uniparental disomy
    Index Terms: Early-Onset Ileal carcinoid tumor
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  • Kristoffersson U, Lagergren J, Heim S, Mandahl N: Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/46,XY. Clin. Genet. 34:201-203, 1988. [PubMed: 3180507]
    Patient at 5 years of age has slight widening of the posterior part of the brain ventricles, anomalies of vertebrae and ribs, with slow psychomotor development.
    Parental karyotypes were normal.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
    Index Terms: Tetrasomy ... 8p
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  • Le Bris M-J, Marcorelles P, Audrezet M-P, Parent P, Heren P, Le Guern H, Herry A, Morel F, Collet M, Ferec C, De Braekeleer M.: Prenatal diagnosis of mosaic tetrasomy 8p. AJMG DOI=10.1002/ajmg.a.20199;120A:44-48, 2003. [PubMed: 12794691]
    46,XX[23]/47,XX,+i(8p)[2].,Mosaicism was confirmed in other tissues using D8Z2.
    Mother was 43 years old. Ultrasound examination at 26 weeks revealed enlarged ventricles and agenesis of corpus callosum. Pregnancy was then terminated.
    The extra chromosome was of maternal origin.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
  • Lin C C, Sasi R, Lee C, Fan Y S, Court D: Isolation and identification of a novel tandemly repeated DNA sequence in the centromeric region of human chromosome 8. Chromosoma 102:333-339, 1993. [PubMed: 7916664]
    Aberration: Marker chromosome
    Index Terms: Tandem repeats
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  • Newton D, Hammond L, Wiley J, Kushnick T: Mosaic tetrasomy 8p. AJMG 46:513-516, 1993. [PubMed: 8322811]
    mos46,XX(80%)/47,XX,+i(8p)(20%)de novo.
    The 2 1/2 child had MCA and developmental delay.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
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  • Nucaro A L, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P.: Prenatal diagnosis of a mosaic supernumerary marker iso (8p)(tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes. Prenat. Diag. DOI=10.1002/pd.1427; 26:418-419, 2006. [PubMed: 16532523]
    CVS: short-term=46,XY, Long-term=47,XY,+mar[60%].,Amniotic fluid cells cultured=46,XY[25].,Blood at 2 months of age=47,XY,i(8p)[5%].
    The pregnancy was continued after genetic counseling. The infant presented with delayed psychomotor development, hypotonia, poor visual contact and difficulty in feeding and swallowing.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p
    Index Terms: 8p tetrasomy
  • Nusbaum C, Mikkelsen T S, Zody M C, Asakawa S, Taudien S, Garber M, Kodira C D, Schueler M G, Shimuzu A, Whittaker C A, Chang J L, Cuomo C A, Dewar K, FitzGerald M G, Yang X, Allen N R, Anderson S, Asakawa T, Blechschimdt K, Bloom T, Borowsky M L, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley K T, Dorris L, III, Engels R, Glockner G, Hafez N, Hagopian D S, Hall J L, Ishikawa S K, Jaffe D B, Kamat A, Kudoh J, Lehmann R, Lokisang T, Macdonald P, Major J E, Matthews C D, Mauceli E, Menzel U, Mihalev A H, Minoshima S, Murayama Y, Naylor J W, Nicol R, Nguyen C, O''Leary S B, O''Neill K, Parker S C J, Polley A, Raymond C K, Reichwald K, Rodriguez J, Sasaki T, Schilhabe; M, Siddiqui R, Smith C L, Sneddon T P, Talamas J A, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young S K, Zeng Q, Zimmer A R, Rosenthal A, Birren B W, Platzer M, Shimizu N, Lander E S. : DNA sequence and analysis of human chromosome 8. Nature 439:331-335, 2006. [PubMed: 16421571]
    Index Terms: DNA sequence
  • Plattner R, Heerema N, Yurov Y B, Palmer C G: Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum. Genet. 91:131-140, 1993. [PubMed: 8462972]
    Case 24.
    mos46,XY/47,XY,+8(small marker like).
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  • Robinow M, Haney N, Chen H, Sorauf T, Van Dyke D L, Babu V R, Powell S, Maliszewski W, Guerin S, Landers J W: "Secondary trisomy or mosaic ""tetrasomy"" 8p." AJMG 32:320-324, 1989. [PubMed: 2729351]
    Patient 1
    Corpus callosum was absent in both patients, and cerebral ventricles were enlarged.
    Patient 2
    Patient 2 died at 8 months of age. Parental chromosomes were normal.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
    Index Terms: Corpus callosum
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  • Schrander-Stumpel C T R M, Govaerts L C P, Engelen J J M, van der Blij-Philipsen M, Borghgraef M, Loots W J G, Peters J J M, Rijnvos W P M, Smeets D F C M, Fryns J P: Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. AJMG 50:377-380, 1994. [PubMed: 7516121]
    Patients 1 and 2:
    Both children presented with abnormalities.
    Chromosome specific paints from Gibco BRL conclusively demonstrated that the extra chromosome consisted 8 material entirely.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
    No band
  • Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O''Brien P, Biesecker L, du Manoir S, Ried T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case No. MP2:
    The patient had dysmorphic features and developmental delay.
    Index Terms: SKY
  • Soler A, Sanchez A, Carrio A, Badenas C, Mila M, Borrell A.: Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis. Prenat. Diag. 23:319-322, 2003. [PubMed: 12673638]
    CVS at 12.4 weeks (semi-direct)=,46,XX,i(8q[7]/46,XX,del(8)(p11.2)[28].,Amnio at 15 weeks=46,XX,dup(8)(p23p11.2)de novo.
    Mother was 39 years old. Ultrasound showed communicant hydrocephalus, clinodactyly and abnormal orientation of heart at 15 weeks. Pregnancy was terminated at 18 weeks.
    Aberration: IC,DU,TD
    Chromosomal Aneuploidy: 8p+;8p-;8q+
  • Spinner N B, Grace K R, Owens N L, Sovinsky L, Pellegrino J E, McDonald-McGinn D, Zackai E.: Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. AJMG 56:22-24, 1995. [PubMed: 7747780]
    Blood:mos46,XY/47,XY,+minute 8.
    The 3- year-old was initially seen for skeletal anomalies and developmental delay. He has deep plantar creases and everted lower lip.
    Chromosomal Aneuploidy: 8cen+
    No band
  • Tilstra D J, Grove M, Spencer A C, Norwood T H, Pagon R A: Mosaic isochromosome 8p. AJMG 46:517-519, 1993. [PubMed: 8322812]
    mos46,XY(56 cells)/47,+i(8p)(33 cells).
    The patient was 7 1/2 years old with no distinguishing findings on physical examination.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
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  • Tonk V S, Kukolich M K, Morgan D, Khan A, Jalal S M.: Ring chromosome 8 syndrome: further characterization. AJMG 90:162-164, 2000. [PubMed: 10607957]
    Case 1:
    47,XX,+r.ish r(8)(wcp8+,D8Z2+)de novo
    The 2yo patient had minor facial anomalies, near-normal growth, and hypotonic.
    Case 2:
    mos47,XY,+r.ish r(8)(D8Z2+)de novo.,26 cells had a large ring, and 24 had the small ring.
    The 32mo patient had minor craniofacial anomalies and growth and mental retardation.
    Aberration: Ring chromosome
  • Vanhaesebrouck S, Van Laere D, Fryns J-P, Theyskens C.: Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome. AJMG Part A: 143A: 2469-2472, 2007. [PubMed: 17853456]
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8+
    Index Terms: Bartter syndrome-Pseudo, Hirschsprung disease
  • Venta P J, Shows T B, Curtis P J, Tashian R E: Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. PNAS 80:4437-4440, 1983. [PMC free article: PMC384053] [PubMed: 6410391]
    MIM#: 259730
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  • Same entry as in 040000,060000 (Wassman E R et al, 1989).

  • 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]
    Normal female, followed till 3 years.
    Aberration: Simple translocation
    No band
  • Winters J, Markello T, Nance W, Jackson-Cook C.: Mosaic "tetrasomy" 8p: case report and review of the literature. Clin. Genet. 48:195-198, 1995. [PubMed: 8591671]
    Patient with MCA died 7 days of age.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
    No band
  • Wolstenholme J, Faed M J W, Robertson J, Lamont M A: Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies susequent to ascertainment and a study of familial translocation carriers. Hum. Genet. 63:45-47, 1983. [PubMed: 6832779]
    Aberration: Whole-arm translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Wood S: Human chromosome 8. J. Med. Genet. 25:721-731, 1988. [PMC free article: PMC1051574] [PubMed: 3070042]
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Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106717
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