U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details

04p150

4p15
  • Andersen O, Lundsteen C, Niebuhr E: A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4. Cytogenet. Cell Genet. 30:3-10, 1981. [PubMed: 7261680]
    Mother has a normal phenotype.
    46,XX, inv ins (13;4) -inv (4)(q32;q35q13)(p15q13), 9qh+.&"46,XX, inv ins (13;4) inv(4) (13pter -> 13q32::4q35 -> 4q13 ::13q32 -> 13qter; 4pter -> 4p15::4q13 -> 4p15::4q35 -> 4qter) 9qh+."
    Patient was 10 years old and mentally retarded.
    46,XX,-4,-13,+rec(4)dup p; inv (4) (p15q35)+der(13), inv ins(13;4) - (q32;q35q13) mat.&"46,XX, -4,-13, +rec (4) dup p, inv (4) (4pter -> 4q13::4p15 -> 4pter), +der (13), inv ins (13;4)(13pter -> 13q32::4q35 -> 4q13::13q32 -> 13qter)mat."&The authors were not comfortable with describing this anomaly by using the ISCN (1978).
    Aberration: Complex translocation
    Positive band
  • Same entry as in 01p330,01q420 (Boue and Gallano, 1984).
  • 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]
    t(4;6)(p15;p21); t(4;20)(p15;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Cannizzaro L A, Ladda R L, 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. 523.
    46,XY,t(4;20)(p15;q13).
    Aberration: Reciprocal translocation
    Positive band
  • Clark C E, Telfer M A, Cowell H R, Kalamchi A, Steg N L: "dup(4p15 to 4pter) in a 19 year-old woman resulting from a maternal 4;14 translocation." AJMG 11:37-42, 1982. [PubMed: 7065001]
    46,XX,-14,+der(14)t(4;14)(14qter -> 14p12::4p15 -> 4pter)mat.
    46,XX,t(4;14)(p15;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Durak B, Ozon Y H, Ozdemir M, Artan S, Basaran N, Basaran S, Ozkinay C.: FISH analysis with locus-specific probes in sperm from two translocation carrier men. Clin. Genet. 56:129-135, 1999. [PubMed: 10517249]
    46,XY,t(4;8)(p15;p12).
    The mean frequency of alternate and/or adjacent-1 (adj-1) segregation types was 69.47%, whereas they were 30.51 and 78.70% for the adjacent-2 (adj-2) and alternate/adj-2 segregation types, respectively.
    Aberration: Reciprocal translocation
  • Fraisse J, Lauras B, Couturier J, Freycon F: Ring-4 chromosome. I. With 4p- phenotype. Ann. Genet. 20:101-104, 1977. [PubMed: 302681]
    46,XY,r(4)(p15;q35).
    Parents karyotypes were normal. The 8 year-old patient had mental retardation, growth retardation and developmental defects.
    Aberration: Ring chromosome
    Positive band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XY,t(4;6)(p16;q26).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Garcia-Heras J, Martin J.: A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review. AJMG 109:226-230, 2002. [PubMed: 11977183]
    Martin J A, Chiu W, Garcia M F, Garica-Heras J.: A rec(4) dup4p inherited from a mat inv(4)(p15q35). Case report and review. AJHG 67 (Suppl. 2):145, 2000.
    46,XX,inv(4)(p15q35).,46,XX,der rec(4) dup(4p) inv(4)(p15q35)mat.
    The 4 year old was being evaluated for developmental delay, lack of speech, severe behavioral problems and malformations.
    Two other healthy siblings carry the same maternal pericentric inversion.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 4p+
    No band
  • Gonzalez C H, Capelozzi V L, Wajntal A: Pathologic findings in the Wolf-Hirschhorn (4p-) syndrome. AJMG 9:183-187, 1981. [PubMed: 7282779]
    Patient TAS070377 died after 4 months. Autopsy showed hypoplasia of most organs. Parents had normal chromosomes.
    46,XX,del(4)(:p15 -> qter).
    Aberration: Terminal deletion
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • Hannig V, Schroer R J, Martens P R, Phelan M C: Chromosome 4p deletion with substitution of unknown chromosomal segment and clinical signs of Wolf syndrome. Proc. Greenwood Genet. Ctr. 3:19-21, 1984.
    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 disgnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case C. S. (MP1):
    46,XY,der(4)t(4;8)(p15::?).
    The patient was ascertained because of dysmorphic features and developmental delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome,SKY
  • Ioan D M, Dumitriu L, Museteanu P, Ioanitiu D, Pop T, Maximilian C: Cytogenetic investigation in 300 couples with recurrent fetal wastage. Romanian J. Med. 25:145-148, 1987. [PubMed: 3685845]
    46,XY,t(4;5)(p15;q35).
    Aberration: Simple translocation
    Positive band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    46,XX,-4,+der(4)t(4;7?)(p15;p15)de novo.
    Positive band
  • Kreiger D, Palmer C G, Biegel A: Human autosomal deletion mapping and HL-A. Humangenetik 23:159-160, 1974. [PubMed: 4852303]
    46,XX,del(4)(p15).&46,XX,del(4)(qter -> p15:).
    Aberration: Terminal deletion
    Positive band
  • Lejeune J, Rethore M O, Dutrillaux B, Lafourcade J, Cruveiller J, Drillon P: "4p- syndrome due to paternal translocation t(4;20)(p15;p12)." Lyon Med. 233:271-274, 1975.
    Case I.P. (No. 14653) in this report.
    46,XY,t(4;20)(p15;p12).&"46,XY,t(4;20)(4pter -> 4p15::20p12 -> 20qter;20pter -> 20p12::4p15 -> 4qter)."
    Case I.P.C. (No. 392) in this laboratory.
    46,XX,-4,+der(4)t(4;20)(p15;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship L.P. in this report.
    t(4;12)(p15;p13).
    Aberration: Reciprocal translocation
    Positive band
  • Perez-Castillo A, Abrisqueta J A: Ring chromosome 4 and Wolf syndrome. Hum. Genet. 37:87-91, 1977. [PubMed: 881198]
    46,XY,r(4)(p15 -> q35).&A male child with multiple malformations and fetal hypotrophy died few days after birth. Karyotypes of the parents and a brother were normal.
    Aberration: Ring chromosome
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,inv(4)(p15q13).
    Aberration: Inversion pericentric
    Positive band
  • Rethore M O, Hoehn H, Rott H D, Couturier J, Dutrillaux B, Lejeune J: Analyse de la trisomie 9p par de naturation menagee. Humangenetik 18:129-138, 1973. [PubMed: 4124236]
    Case No. 7 in this report.
    46,XX,t(4;9)(p15;q21).&"46,XX,t(4;9)(4qter -> 4p15::9q21 -> 9qter;9pter -> 9q21::4p15 -> 4pter)."
    Aberration: Reciprocal translocation
    Positive band
  • Rivas F, Hernandez A, Nazara Z, Fragoso R, Olivares N, Rolon A, Cantu J M: On the deletion 4p16 Wolf-Hirschhorn syndrome. Ann. Genet. 22:228-231, 1979. [PubMed: 317787]
    All parents were cytogenetically normal. In cases 2 and 3 the extra chromosome material has not been identified.
    Case 1, 001274.
    46,XX,del(4)(qter -> p15:).
    Case 2, 000777.
    46,XX,4p+.
    Case 3, 000578.
    46,XX,4p+.
    Aberration: Terminal deletion
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XY,t(4;16)(p15;q23).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Sanchez-Corona J, Garcia-Cruz D, Rivera H, Vaca G, Hernandez A, Rolon A, Cantu J M: Simultaneous partial trisomy 4p and monosomy 10p resulting from a paternal balanced translocation. Ann. Genet. 26:41-43, 1983.
    46,XX and XY,rcp(4;10)(p15;p14).&"46,XX and XY,rcp(4;10)(4qter -> 4p15::10p14 -> 10pter;10qter -> 10p14::4p15 -> 4pter)."&"46,XX,-10,+der(10)t(4;10)(p15;p14)pat."
    Aberration: Reciprocal translocation
    Positive band
  • Sherer D M, Shah Y G, Wang N, Metlay L A, Woods J R: Prenatal diagnosis and subsequent management of a fetus with a 46,XY r(4)(p15-q35) karyotype. Am. J. Perinat. 8:53-55, 1991. [PubMed: 1987971]
    46,XY,r(4)(p15q35).
    There was spontaneous delivery at 39 weeks and the baby died minutes after birth.
    Aberration: Ring chromosome
    Positive band
  • Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn syndrome in fetuses. Clin. Genet. 42:281-287, 1992. [PubMed: 1493641]
    Case 3.
    46,XY,t(4;19)(p15;p13).&"46,XX,der(4)t(4;19)(p15;p13)pat."
    Infant was extracted at 33 weeks but died after 5 minutes. The couple had two early abortions.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Patient 11 had Wolf-Hirschhorn syndrome.
    46,XX,der(4)t(4;13)(p15;q32)
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4p-
  • Vockley J, Inserra J A, Breg W R, Yang-Feng T L: """Pseudomosaicism"" for 4p- in amniotic fluid cell culture proven to be true mosaicism after birth." AJMG 39:81-83, 1991. [PubMed: 1714238]
    Blood-1/20 cells-46,XX,del(4)(p15).&Blood-5/100 cells-46,XX,del(4)(p15).&Amniocytes in situ- one in 18 colonies all cells-46,XX,del(4)(p15).&Amniocytes flask- 27 cells-46,XX.
    Patient at 18 months of age shows developmental delay and minor anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Pseudomosaicism,True mosaicism
    Positive band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XX,t(4;12)(p15;q24).&"46,XY,t(4;21)(p15;q22)."
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106635
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...