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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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04p120

4p12
  • Andrle M, Erlach A, Killian W, Rett A: Two cases of trisomy 4p with translocation t(4p-7q+) in several members of one family. Hum. Genet. 33:155-160, 1976. [PubMed: 939567]
    Case 1, III-13 (000057) and case 2, III-9 (000062) in this report.
    46,XX and XY,-7,+der(7)t(4;7)(p12;qter)mat and pat.&"46,XX and XY,-7,+der(7)t(4;7)(7pter -> 7qter::4p12 -> 4pter)mat and pat."
    Individual I-2 in the pedigree.
    46,XY,t(4;7)(p12;qter).&"46,XY,t(4;7)(4qter -> 4p12:;7pter -> 7qter::4p12 -> 4pter)."
    Individual III-18 in the pedigree.
    45,XX,-4,-7,-13,-14, +t(13q14q)+der(4)+der(7)t(4;7)(p12;qter)mat.
    Individual IV-2 in the pedigree.
    45,XY,der(13q14q)mat.
    Individuals II-2, II-4, II-7 and II-10 in the pedigree.
    46,XX and XY,der(4)der(7)t(4;7)(p12;qter)pat.
    Aberration: Simple translocation
    Negative band
  • Bauknecht T, Betteken F, Vogel W: "Trisomy 4p due to a paternal t(4p-;16p+) translocation." Hum. Genet. 34:227-230, 1976. [PubMed: 1002146]
    46,XY,t(4;16)(p12;p13).&"46,XY,t(4;16)(4qter -> 4p12:;16qter -> 16q13::4p12 -> 4pter)."&"46,XY,-16,+der(16),t(4;16)(p12;p13)pat."
    Aberration: Simple translocation
    Negative band
  • Bensen J T, Nelson L H, Pettenati M J, Block S M, Brusilow S W, Livingstone L R, Burton B K: First report of management and outcome of pregnancies associated with hereditary orotic aciduria. AJMG 41:426-431, 1991. [PubMed: 1776631]
    Subject IV-I:47,XX,inv(4)(p12q25),+der(22)t(11;22)(22pter -> 22q11::11q23 -> 11qter)mat.&46,XX or XY, der inv(4)(p12q25)mat or pat.&"Subject III-2:46,XX,der inv(4)(p12q24)mat,t(11;22)(q23;q11)de novo."
    Management of a 25 year old patient with Hereditary orotic aciduria (OA Type I) is described.
    Aberration: Inversion pericentric
    MIM#: 258900
    Index Terms: Hereditary orotic aciduria
    Negative band
  • Cook P J L, Lindenbaum R H, Salonen R, de la Chapelle A, Daker M G, Buckton K E, Noades J E, Tippett P: The MNSs blood groups of families with chromosome 4 rearrangements. Ann. Hum. Genet. 45:39-47, 1981. [PubMed: 7316476]
    46,XX and XY,inv(4)(p12q33).&46,XX and XY,rec(4)dup p del q,inv(4)(p12q33)mat and pat.&46,XX and XY,rec(4)dup q del p inv(4)(p12q33)mat and pat.
    Aberration: Inversion pericentric
    Negative band
  • Crane J, Sujansky E, Smith A: 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations. AJMG 4:219-229, 1979. [PubMed: 517577]
    Individuals III-2 ML91169 and III-3 CL32472 in this report.
    46,XX or XY,+der(13)t(4;13)(p12;q34)mat.
    Family B; Individual II-10 in this report.
    46,XX,t(4;13)(p12;q34).
    Aberration: Reciprocal translocation
    Negative band
  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    46,XY,t(4;21)(p12;q22)mat.
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 0307 in this report.
    46,XX,der(22),t(4;22)(p12;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Docherty Z, Bowser-Riley S M: A rare heterochromatic variant of chromosome 4. J. Med. Genet. 21:470-472, 1984. [PMC free article: PMC1049352] [PubMed: 6512840]
    46,XY,var(4)(p12.00,G40,Q45,CB40)pat. There is an extra band between 4p11 and 4p12.
    Aberration: Marker chromosome
    Negative band
  • Fryns J P, Van den Berghe H, Schrander-Stumpel C.: Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. AJMG 53:204-205, 1994. [PubMed: 7856651]
    Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L, Maat-Kievit A, van der Burgt I, van Essen T, Latta E, Hillig U, Verloes A, Journel H, Fryns J P.: The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Europ. J. Pediat. 153:438-445, 1994. [PubMed: 8088300]
    46,XX,der inv(4)(p12pter)mat.
    Patient was 3 years old.
    Aberration: Inversion paracentric
    MIM#: 147920
    Index Terms: Kabuki syndrome
    Negative band
  • Fryns J-P.: Letter to the Editor-Partial trisomy 4p and Brachmann-de lange syndrome. AJMG 95:406, 2000. [PubMed: 11186901]
    Mau U A, Backsch C, Schaudt H, Trefz F-K, Kaiser P.: Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome - another locus for Brachmann-de Lange syndrome on 4p? AJMG 91:180-184, 2000. [PubMed: 10756338]
    Propositus N.A. was born in 1994 and is of Kuwait ancestry.
    46,XX,der(8)t(4;8)(4pter->4p12::8p23->8qter).
    The three year old had several symptoms suggestive of de Lange syndrome.
    Aberration: Simple translocation
    MIM#: 122470
    Chromosomal Aneuploidy: 4p+;8p-
    Index Terms: Brachmann-Cornelia de Lange syndrome
  • Giraud F, Mattei J F, Mattei M G, Ayme S, Bernard R: Trisomy 4p. Three new observations. Humangenetik 30:99-108, 1975. [PubMed: 1193607]
    46,XX,dup(4p).&46,XX,dup(4)(pter -> p16::p12 -> p16::p16 -> qter).
    Aberration: Duplication
    Negative band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case IV-4 from Richkind K E (88013360).
    mos46,XY/46,XY,del(4)(p12)(13.3%).
    Normal male liveborn.
    46,XY-blood. Mosaicism confirmed in skin fibroblasts.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Negative band
  • Jalal S M, Law M E.: Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics. Genet. in Med. 1:181-186, 1999. [PubMed: 11256670]
    Also see the editorial by Dr. Stuart Scwartz entitled ''Molecular cytogenetics: show me the colors'' pages 178-180 in the same issue.
    Case 5:
    46,XY,add(4)(p12).ish t(2;4)
    The specimen was an aborted fetus, at 7.5 weeks, from a karyotypically normal 25-year-old mother.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4p-
    Index Terms: M-FISH
  • Kalousek D K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 452.
    46,XY,t(4;10)(p12;p12).
    Aberration: Reciprocal translocation
    Negative band
  • Lozzio C B, Klepper M B: Chromosome aberrations identified by the new banding techniques. AJHG 26:55A, 1974.
    inv(4)(p12q34).&This familial inversion is reported here.
    Aberration: Inversion pericentric
    Negative band
  • Mann J, Wcislo K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 498.
    46,XX,t(4;17)(p12;q23)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Neu R L, Miller K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1229.
    46,XX,inv(4)(p12q23)mat.
    Aberration: Inversion pericentric
    Negative band
  • Nielsen J, Fischer O, Rasmussen K, Sillesen I, Bernsen A H, Saldana-Garcia P: A 13-year-old girl with Wolf''s syndrome and karyotype 46,XX,del(4)(pter to p15::p12 to qter),9qh+. Increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+. J. Ment. Def. Res. 21:119-126, 1977. [PubMed: 894706]
    Aberration: Interstitial deletion
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Oorthuys J W E, Gerssen-Schoorl K B J, de Pater J M, de France H F: A third case of de novo partial trisomy 4p. J. Med. Genet. 26:344-345, 1989. [PMC free article: PMC1015606] [PubMed: 2732997]
    46,XY,dup(4)(p12 -> p15.2).
    The patient was 21 years old with anomalies and mental deficiency.
    Parental chromosomes were normal.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 4p+
    Negative band
  • Patel S V, Dagnew H, Parekh A J, Koenig E, Conte R A, Macera M J, Verma R S.: Clinical manifestations of trisomy 4p syndrome. Europ. J. Ped. 154:425-431, 1995. [PubMed: 7671938]
    46,XX,der(22)t(4;22)(p12;p11.1)de novo.
    The newborn patient had MCA. A review of 75 previously described 4p trisomy cases suggests the following characteristics: prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel, arachnodactyly, and camptodactyly.
    Parental chromosomes were normal.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4p+
    Negative band
  • Ray M, Evans J A, Rockman-Greenberg C, Wickstrom D E: Interstitial deletion of the short arm of chromosome 4. J. Med. Genet. 21:223-225, 1984. [PMC free article: PMC1049273] [PubMed: 6748021]
    46,XX,del(4)(p12p15).
    Aberration: Interstitial deletion
    Negative band
  • Reynolds J F, Shires M A, Wyandt H E, Kelly T E: Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression. Clin. Genet. 24:365-374, 1983. [PubMed: 6418421]
    46,XX and XY, der(4)der(7)t(4;7)(p12;q36)mat and pat.&"46,XY,-7,+der(7)t(4;7)(7pter -> 7q36::4p12 -> 4pter)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XY,t(4;11;18)(p12;p15.1;q23)
    Aberration: Complex translocation
    Index Terms: ICSI
  • Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.: First patient with trisomy 21 accompanied by an additional der(4)(:p11->q11:) plus partial uniparental disomy 4p15-16. AJMG DOI=10.1002/ajmg.10830; 116A: 26-30, 2003. [PubMed: 12476447]
    Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Case 10:
    Peripheral blood=48,XY,+21,+mar[28]/47,XY,+21[7].cenMFISHmin(4)de novo.SubcenM-FISH4p+;pcp4p+;cep4+min(4)(:p12->q11:),UPD(4p15-16)
    The newborn had clinical signs of Down syndrome.
    Aberration: Uniparental disomy
    Chromosomal Aneuploidy: 4p+; 4q+
  • Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    Negative band
  • Vincent J B, Horike S I, Choufani S, Paterson A D, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer S W.: An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. . J. Med. Genet. 43:429-434, 2006. [PMC free article: PMC2649013] [PubMed: 16556609]
    Two brothers in the family were studied. They had inherited the inv (4) from their apparently healthy mother and maternal grandfather.
    46,XY,inv(4)(p12p15.3)mat.
    The inversion breakpoint, disrupting GABRG1 provided support for the genetic involvement in the aetiology of autism.
    Aberration: Inversion paracentric
    MIM#: 209850
    Index Terms: GABA,Autist(ic)
  • 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]
    46,XY,inv(4)(p12q35).
    Aberration: Inversion pericentric
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106653
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