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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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04q260

4q26
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 11644 in this report.
    46,XX,t(4;18)(q26;p113).&"46,XX,t(4;18)(4pter -> 4q26::18p113 -> 18pter;18qter -> 18p113::4q26 -> 4qter)."
    Patient I.P. No. 17538 in this report.
    46,XX,t(4;15)(q26;q23).&"46,XX,t(4;15)(4pter -> 4q26::15q23 -> 15qter;15pter -> 15q23::4q26 -> 4qter)."
    Aberration: Reciprocal translocation
    Positive band
  • 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;5)(q26;p15); t(4;14)(q26;q21).
    Aberration: Reciprocal translocation
    Positive band
  • Canki N, Debevec M, Rainer S, Rethore M O: "Trisomy 4q26 to 4qter due to a (4;18)(q26;q23)mat translocation." Ann. Genet. 20:195-198, 1977. [PubMed: 304703]
    46,XX and XY,t(4;18)(q26;q23).&"46,XX,-18,+der(18),t(4;18)(q26;q23)mat."
    Case 140275, IV-1 in the pedigree.
    46,XX,-18,+der(18),t(4;18)(18pter -> 18q23::4q26 -> 4qter)mat.&The translocation is present in at least three generations in this family. There were three miscarriages and deaths after birth also in this family.
    Aberration: Simple translocation
    Positive band
  • Datson N A, Semina E, van Staalduinen A A A, Dauwerse H G, Meershoek E J, Heus J J, Frants R R, den Dunnen J T, Murray J C, van Ommen G J B. : Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. AJHG 59:1297-1305, 1996. [PMC free article: PMC1914859] [PubMed: 8940275]
    Semina E V, Datson N A, Leysens N J, Zabel B U, Carey J C, Bell G I, Bitoun P, Lindgren C, Stevenson T, Frants R R, van Ommen G J, Murray J C.: Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. AJHG 59:1288-1296, 1996. [PMC free article: PMC1914874] [PubMed: 8940274]
    Patient AR:
    46,XY,del? or inv(4)(q26q28)
    The patient had an omphalocele repaired at birth, anterior segment abnormalities, dental hypoplasia, and moderate developmental delay. The patient is adopted and family history data are not available.
    Patient MS and her daughter.
    46,XX,der t(4;16)(q26;q22)mat.
    Both MS and her daughter HS have the ocular features of Rieger syndrome as well as dental hypoplasia.
    Aberration: Reciprocal translocation
    MIM#: 180500
    Index Terms: Rieger syndrome
    Positive band
  • Hirschhorn K, Lucas M, Wallace I: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36:375-379, 1973. [PubMed: 4270654]
    Family W(Gc 334) in this report.
    46,XY,t(4;12)(q26;q12).&"46,XY,t(4;12)(4pter -> 4q26::12q12 -> 12qter;12pter -> 12q12::4q26 -> 4qter)."&"46,XY,der(4)der(12)t(4;12)(q26;q12)pat."&"46,XX,-4,+der(4)t(4;12)(q26;q12)pat."
    Aberration: Reciprocal translocation
    Positive band
  • Motegi T, Nakamura K, Terakawa T, Oohira A, Minoda K, Kishi K, Yanagawa Y, Hayakawa H: Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J. Med. Genet. 25:628-633, 1988. [PMC free article: PMC1051542] [PubMed: 3184142]
    46,XX,del(4)(q26.00q27.00).
    Multiple congenital anomalies were present.
    Parental karyotypes were normal.
    Aberration: Interstitial deletion
    MIM#: 180500
    Chromosomal Aneuploidy: 4q-
    Index Terms: Rieger syndrome
    Positive band
  • Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]
    Case 13:46,XY,der(11)t(4;11)(q26;q24)wcp4+,wcp11-
    Patient 13, born in 2000, had hypoplastic left ventricle, dysmorphic features, bilateral cryptorchidism, curved penis, and early neonatal death.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q+;11q-
    Index Terms: CGH
  • Stoll C, Roth M P: "Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X." Hum. Genet. :303-304, 1980. [PubMed: 6985462]
    46,XX,t(4;13)(q26;q34).
    Patient, R. L., was 11 years old.
    46,XX,-13,+der(13)t(4;13)(13pter -> 13q34::4q26 -> 4pter)mat.
    Aberration: Simple translocation
    Positive band
  • Taylor K M, Francke U, Brown M G, George D L, Kanfhold M: Inverted tandem (''Mirror'') duplications in human chromosomes: inv dup 8p, 4q, 22q. AJMG 1:3-19, 1977. [PubMed: 610424]
    Patient 3 (RN 140470) in this report.
    46,XY,inv dup(4)(pter -> q35::q35 -> q26::q35 -> qter).&Both parents had normal karyotypes. Multiple congenital abnormalities were present in this 6 1/2 year old patient.
    Aberration: Duplication
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106188
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