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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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  • Andre M J, Aurias A, de Berranger P, Gillot F, Lefranc G, Lejeune J: De novo trisomy 4p due to isochromosome 4p formation. Ann. Genet. 19:127-131, 1976. [PubMed: 1085601]
    Aurias A, Dutrillaux B: A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication. Hum. Genet. 72:25- 26, 1986. [PubMed: 3943861]
    A revised interpretation of the chromosome abnormality has been provided.
    46,XY,-1,-4,+t(1;4)+i(4)p.,46,XY,-1,-4,+t(1;4)(1qter -> 1p36::cen 4 -> 4qter)+i(4p)(pter -> cen -> pter).
    Case B (041272) in this report.
    Aberration: IC,WT
    No band
  • Bardhan S, Singh D N, Davis K K: Polymorphism in chromosome 4. Clin. Genet. 20:44-47, 1981. [PubMed: 6170484]
    Two areas on chromosome 4 were found to be polymorphic, one at the centromeric region and the other on the proximal end of the short arm (4p13).
    Aberration: Marker chromosome
    No band
  • Buhler E M: Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann. Genet. 26:133-137, 1983. [PubMed: 6606374]
    Patient with hydranencephaly and de novo t(4q;13q).
    Aberration: Simple translocation
    MIM#: 236500
    Index Terms: Hydranencephaly
    No band
  • Cammarata S, Archidiacono N, Romeo G, Benassi G, Guarino M, D''Alessandro R: Prevalence of mental retardation related to fragile X syndrome and other chromosomal abnormalities in the republic of San Marino. Develop. Med. Child Neurol. 30:646-649, 1988. [PubMed: 2976382]
    t(4;14).&del(4)(p1).
    Aberration: ST,TD
    No band
  • Carrel R E, Sparkes R S, Wright S W: Chromosome survey of moderately to profoundly retarded patients. Am. J. Ment. Defic. 47:616-622, 1973. [PubMed: 4703994]
    45,XX,-4,-13,+t(4q13q).
    Aberration: Simple translocation
    No band
  • Crandall B F, Lebherz T B: Prenatal genetic diagnosis in 350 amniocenteses. Obst. Gynecol. 48:158-162, 1976. [PubMed: 133307]
    t(4p21q).
    Aberration: Simple translocation
    No band
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Case 1.
    mos46,XX/47,XX,+mar(4)mat.
    Case 2.
    mos46,XX/47,XX,+mar(4)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Dallapiccola B, Mastroiacovo P P, Gandini E: Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p. Hum. Genet. 31:121-125, 1976. [PubMed: 1248819]
    Aberration: Centromeric fission
    No band
  • Dearlove O R, Sharples A.: Anaesthesia and partial deletion of chromosome 4. Anaesthesia 51:206, 1996. [PubMed: 8779396]
    46,XY,inv del (4)
    The 7-year-old child had smaller than normal larynx. There was a history of delayed milestones and development.
    No band
  • Edwards J H, Lindenbaum R H: Obituary-Lindenbaum, R H-FRCP. J. Med. Genet. 29:925-926, 1992.
    Dr. Edwards mentions about some unpublished works of Dr. Lindenbaum: A phenotypically normal woman who inherited both of her chromosomes four from her mother.
    No band
  • Ferguson-Smith M A: Autosomal polymorphisms. BD-OAS X(No. 10):19-29, 1974. [PubMed: 4142589]
    46,XX.&Brightly fluorescent centric band was observed on chromosome 4.
    Aberration: Marker chromosome
    No band
  • Furbetta M, Rosi G, Cossu P, Cao A: "A case of trisomy of the short arms of chromosome No. 4 with translocation t(4p21p;4q21q) in the mother." Humangenetik 26:87-91, 1975. [PubMed: 1112609]
    46,XX,rcp(4p21p)(4q21q).&"46,XX,rcp(4;21)(4pter -> cen -> 21pter;21qter -> cen -> 4qter)."
    Patient C.C. in this report.
    47,XX,-4,-21,+der(4p21p),+der(4q21q),+der(4p21p),rcp(4p21p;4q21q)mat.
    Aberration: Whole-arm translocations
    No band
  • 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. 39997:
    mos46,XY/47,XY,+mar.
    Normal appearance.
    No band
  • Hustinx T W J, Gabreels F J M, Kirkels V G H J, Korten J J, Scheres J M J C, Joosten E M G, Rutten F J: "Trisomy 4p in a family with a t(4;15)." Ann. Genet. 18:13-19, 1975. [PubMed: 1080034]
    One subject in this report.
    46,XX,1qh-,t(4;15).
    One subject in this report.
    47,XX,+der(4)t(4;15)mat.
    Three subjects in this report.
    46,XX,-4,-15,+der(4)+der(15)t(4;15)mat.
    Aberration: Reciprocal translocation
    No band
  • Kao F T, Hawkins J W, Law M L, Dugaiczyk A: Assignment of the structural gene coding for albumin to human chromosome 4. Hum. Genet. 62:337-341, 1982. [PubMed: 7166310]
    MIM#: 103600
    No band
  • Khan P M, Wijnen L M M, Hagemeijer A, Pearson P L: Human formaldehyde dehydrogenase (FDH) and its assignment to chromosome 4. Cytogenet. Cell Genet. 38:112-115, 1984. [PubMed: 6467984]
    No band
  • Kuchinka B D, Barrett I J, Moya G, Sanchez J M, Langlois S, Yong S.-L, Kalousek D K, Robinson W P.: Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat. Diag. 21:36-39, 2001. [PubMed: 11180238]
    Case CPM4-1:
    CVS (direct)=47,XX,+4[15].,Chorionic stroma (long-term)=46,XX[5].,Amniotic fluid at 17 weeks=46,XX[30].
    The baby died in utero in the 30th week. Oligohydramnios and IUGR was detected.
    Case CPM4-2:
    Mother=46,XX,t(10;15)(q22.3;q26.1).,Fetus (cvs at 11 weeks)=46,XX,der t(10;15)(q22.3;q26.1)mat[30],,47,XX,der t(10;15),+4[2 colonies in 2 cultures].
    The child has minor dysmorphic features and a lower growth rate.
    Aberration: Uniparental disomy
    Index Terms: CPM,UPD
    No band
  • Kurnit D M, Philipp B W, Bruns G: Confirmation of the mapping assignment of human serum albumin to chromosome 4 using a cloned human albumin gene. Cytogenet. Cell Genet. 34:282-288, 1982. [PubMed: 6897630]
    MIM#: 103600
    No band
  • Liehr T, Ziegler M, Starke H, Heller A, Kuechler A, Kittner G, Beensen V, Seidel J, Habler H, Musebeck J, Clausen U.: Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA-heteromorphism. Clin. Genet. 64:166-167, 2003. [PubMed: 12859415]
    Liehr T.: Personal communication, 2003.
    Case 2:
    46,XY,var (dup?) cen(4).ish (cep 4++)
    The 34 year old was being evaluated for subfertility problems.
    Family studies were not done as per Dr. T. Liehr, July 21.
    Aberration: MA,DU
    Index Terms: Alphoid DNA heteromorphism
  • Lucas J N, Poggensee M, Straume T: "Translocations between two specific human chromosomes detected by three-color ""chromosome painting""." Cytogenet. Cell Genet. 62:11-12, 1993. [PubMed: 8422750]
    t(4;12).
    Chromosome 4 was painted green by alternating 20-minute incubation (at room temperature) in avidin-FITC and biotinylated goat antiavidin antibody. Chromosome 12 was painted red with commercial GIBCO BRL probe. Other chromosomes were counter stained pale red with propidium iodide.
    Aberration: Simple translocation
    Index Terms: Chromosome painting,CSP
    No band
  • Middleton F A, Trauzzi M G, Shrimpton A E, Gentile K L, Morley C P, Medeiros H, Pato M T, Pato C N.: Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays. AJMG (Neuropsychiatric Genet.) 141B: 28-32, 2005. [PubMed: 16331669]
    46,XX,upd(4)mat
    A mother of two, whose siblings were affected with schizophrenia, with major depressive disorder.
    Aberration: Uniparental disomy
    Index Terms: Major Depressive disorder
  • Owen L, Martin B, Blank C E, Harris F: Multiple congenital defects associated with trisomy for the short arm of chromosome 4. J. Med. Genet. 11:291-295, 1974. [PMC free article: PMC1013146] [PubMed: 4431034]
    46,XY,t(4;21).&"46,XX,-21,+der(21)t(4;21)pat."
    Aberration: Simple translocation
    No band
  • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J: Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. PNAS 85:9138-9142, 1988. [PMC free article: PMC282679] [PubMed: 2973607]
    An exciting new technique is described with potential use in clinical laboratories.
    No band
  • Quadrelli R, Quadrelli A, Mechoso B, Laufer M, Jaumandreau C, Vaglio A.: Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available. Prenat. Diag. 27: 228-232, 2007. [PubMed: 17191256]
    46,t(9;14)(p24;q22)dn. Continued.,46,t(7;8)(p15;q12)dn. Continued.,46,der(4)t(4;10)mat.Terminated.,46,der(18)t(6;18)mat. Continued.
    Aberration: Simple translocation
  • 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(4;16).
    Normal female, followed till 3 years.
    t(4;8).
    Elective abortion.
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105468

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