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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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04p110

4p11
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(4;21)(p11;q11).&"46,XX,t(4;10)(p11;q26)."
    Aberration: Reciprocal translocation
    Variable band
  • Cantu E S, Frias J, 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. 418.
    46,XX,t(4;5)(p11;q11)mat.
    Aberration: Whole-arm translocations
    Variable band
  • Dallapiccola B, Mastroiacovo P P, Montali E, Sommer A: Trisomy 4p: five new observations and overview. Clin. Genet. 12:344-356, 1977. [PubMed: 563312]
    The features of this syndrome include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.
    Case 4 in this report.
    46,XY,-22,+der(22),t(4;22)(p11;p12)mat.
    Case 5 in this report.
    47,XX,+der(4p;22p)mat.
    Mother''s karyotype is 46,XX,t(4;22)(4pter to cen to 22pter)(4qter to cen to 22qter).
    Mother''s karyotype is 46,XX,t(4;22)(p11;p12).
    Aberration: Whole-arm translocations
    Index Terms: Facial dysmorphism,Microcephaly
    Variable band
  • Darmady J M, Seabright M: A family with an inherited translocation involving the No. 4/No. 21 chromosomes. J. Med. Genet. 12:408-411, 1975. [PMC free article: PMC1013322] [PubMed: 1219121]
    Seabright M, Miller R C, Greene A E, Coriell L L: "A (4;21) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-98." Cytogenet. Cell Genet. 14:152-153, 1975. [PubMed: 1149496]
    Individual II-2 in the pedigree.
    46,XX,t(4;21)(p11;p12).
    Individual III-1 in the pedigree.
    46,XX,der(4)der(21)t(4;21)(p11;p12)mat.
    Individual III-3 in the pedigree.
    46,XY,-21,+der(21)t(4;21)(p11;p12)mat.&"46,XY,-21,+der(21)t(4;21)(21qter -> 21p12::4p11 -> 4pter)."&This individual is trisomic for the short arm of chromosome 4.
    Aberration: Simple translocation
    Variable band
  • Francke U, Arias D E, Nyhan W L: Proximal 4p- deletion: phenotype differs from classical 4p- syndrome. J. Ped. 90:250-252, 1977. [PubMed: 830918]
    Patient J.R., 30-year-old in this report.
    46,XX,del(4)(p11p152).&46,XX,del(4)(qter -> p11::p152 -> pter).&The patient had moderate mental deficiency and mild central nervous system impairment, normal height, short palpebral fissures, long narrow nose, small malformed ears, drooping narrow shoulders, minor defects of bone development, microcephaly, ptosis and low finger ridge count.
    Aberration: Interstitial deletion
    Index Terms: Central nervous system ... disorder,Ears ... small malformed,Microcephaly,Palpebral fissures ... short,Ptosis
    Variable band
  • Friedrich U, Dalby M, Staehelin-Jensen T, Bruun-Peterssen G: Chromosomal studies of children with developmental language retardation. Develop. Med. Child Neurol. 24:645-652, 1982. [PubMed: 7141121]
    Case No. 8.
    46,XY,t(4;12)(p11:p13)t(6;21)(q13;q22).
    Aberration: Double translocation
    Index Terms: Language deficit ... delayed
    Variable band
  • Giovannelli G, Forabosco A, Dutrillaux B: "Familial translocation t(4;22)(p11;p12) and trisomy 4p in two sibs." Ann. Genet. 17:119-124, 1974. [PubMed: 4547939]
    Giovannelli G, Rossi L, Forabosco A: Radiological findings in two sisters with trisomy of the short arm of chromosome 4. Helv. Paediat. Acta 28:543-552, 1973. [PubMed: 4785152]
    46,XX,t(4;22)(p11;p12).
    Cases 1 and 2 in this report.
    46,XX,-22,+der(22)t(4;22)(p11;p12)mat.&"46,XX,-22,+der(22)t(4;22)(22qter -> 22p12::4p11 -> 4pter)mat."&See other report for further description.
    Aberration: Simple translocation
    Variable 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. 531.
    46,XX,t(4;22)(p11;p13).
    Aberration: Whole-arm translocations
    Variable 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. 419.
    46,XX,t(4;5)(p11;q35)mat.
    Aberration: Reciprocal translocation
    Variable band
  • Nowicki G A, Alaszewski W, Podciechowski L, Glowacka I.: Unsuccessful pregnancies as a result of carrier state of chromosome translocation 46,XX,t(4;5)(p11;q14). Ginekolog. Polska 65:719-722, 1994.
    46,XX,t(4;5)(p11;q14)
    The 36 year old female had three spontaneous abortions.
    Aberration: Reciprocal translocation
  • Nucaro A, Falchi A M, Monni G, Cao A: Pseudomosaic centric fission of chromosome 4 in amniotic cells. Prenat. Diag. 8:629-631, 1988. [PubMed: 3205867]
    The karyotype description as given by the authors does not correspond to the figure in the paper-47,XY cen. fiss.(4)(p11).
    The fetal phenotype after birth was normal and so was the karyotype.
    This is a confusing paper.
    Aberration: Centromeric fission
    Variable band
  • Rogers R C, Phelan M C, Pulliam L, Hamilton T: Partial trisomy of 4p. Proc. Greenwood Genet. Ctr. 5:29-38, 1986.
    Case 1: Patient S.W.(GGC-3880): brother had a balanced karyotype: father had a normal karyotype.
    46,XY,-21,+der(21)t(4;21)(p11;p11)mat?
    Aberration: Simple translocation
    Variable band
  • Verma R S, Dosik H: Human chromosomal heteromorphisms in American blacks. IV. Intensity variation in centromeric regions of chromosomes 3 and 4. Canad. J. Genet. Cytol. 23:315-320, 1981. [PubMed: 7296354]
    Aberration: Marker chromosome
    Variable band
  • Willey A M, 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. 480.
    46,XY,t(4;13)(p11;p11)mat.
    Aberration: Whole-arm translocations
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106247
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