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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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17p130

17p13
  • Au W, Witek J A: Cytochemical analysis on a case of familial 17ps. Hum. Genet. 48:195-199, 1979. [PubMed: 88409]
    Aberration: Marker chromosome
    Negative band
  • Berg J M, Faunch J A, Pendrey J M, Penrose L S, Ridler M A C, Shapiro A: A homozygous chromosomal variant. Lancet 1:531, 1969. [PubMed: 4179603]
    Two parents were heterozygous for satellited chromosome 17. A 14 year old son was mentally subnormal and was found to have a satellited 17. One sister had no satellited 17 and another sister had both 17''s satellited. This is the first report of a homozygous structural variant chromosome 17.
    Aberration: Marker chromosome
    Negative band
  • Bordarier C, Robain O, Rethore M O, Dulac O, Dhellemmes C: Inverted neurons in agyria. A golgi study of a case with abnormal chromosome 17. Hum. Genet. 73:374-378, 1986. [PubMed: 3744365]
    Dhellemmes C, Girard S, Dulac O, Robain O, Choiset A, Tapia S: Agyria-pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. Hum. Genet. 79:163-167, 1988. [PubMed: 3391613]
    Patient S.B. died after 13 months. Parental chromosomes were normal.
    46,XY,der(17)(p13?).
    Aberration: Terminal deletion
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Lissencephaly,Agyria,Miller-Dieker syndrome,Pachygyria
    Negative band
  • Same entry as in 02p110,03p130,03q270,05q330 (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(17;22)(p13;q11); inv(17)(p13q21).
    Aberration: PI,RT
    Negative band
  • Cardoso C, Leventer R J, Dowling J J, Ward H L, Chung J, Petras K S, Roseberry J A, Weiss A M, Das S, Martin C L, Pilz D T, Dobyns W B, Ledbetter D H.: Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum. Mut. 19:4-15, 2002. [PubMed: 11754098]
    Greenberg F, Stratton R E, Dobyns W B, Ledbetter D H: Miller-Dieker syndrome: lissencephaly and monosomy 17p. Proc. Greenwood Genet. Ctr. 2:138, 1983. [PubMed: 6834189]
    Cardoso et al studied 220 children with lissencephaly (LIS) or subcortical band heterotopia (SBH) and report 65 large deletions of the LIS1 gene and 41 intragenic mutations (de novo). Large deletions have severe LIS phenotypes.
    46,XY,r(17)(p13q25).&46,XX,del(17)(p13).
    Aberration: RI,TD
    Index Terms: Lissencephaly,Miller-Dieker syndrome
  • Carpenter N J, Leichtman L G, Stamper S, Say B: An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? J. Med. Genet. 18:234-236, 1981. [PMC free article: PMC1048713] [PubMed: 7241549]
    46,XY,r(17)(p13q25).
    Patient was 4 months old. Parents had normal karyotypes.
    Aberration: Ring chromosome
    Negative band
  • Chandley A C: The relationship between meiotic chromosome pairing and chiasma formation. Hum. Genet. 92:642-643, 1993. [PubMed: 8262531]
    Guichaoua M R, de Lanversin A, Cataldo C, Delafontaine D, Alasia C, Fraterno M, Terriou P, Stahl A, Luciani J M: "Three dimensional reconstruction of human pachytene spermatocyte nuclei of a 17;21 reciprocal translocation carrier: study of XY-autosome relationships." Hum. Genet. 87:709-715, 1991. [PubMed: 1937473]
    Hulten M, Goldman A: The relationship between meiotic chromosome pairing and chiasma formation. Hum. Genet. 91:300, 1993. [PubMed: 8478018]
    Luciani J M, Guichaoua M R, Delafontaine D, North M O, Gabriel-Robez O, Rumpler Y: "Pachytene analysis in a 17;21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility." Hum. Genet. 77:246-250, 1987. [PubMed: 3679209]
    Patient was 33 years old.
    46,XY,t(17;21)(p13;q11).
    Interesting discussion on chiasma formation, pairing and exchanges, as to which occurs first.
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male,Chiasma formation
    Negative band
  • Chudley A E, Pabello P D, McAlpine P J, Nickel B E, Shokeir M H K: Ring chromosome 17 in a mentally retarded young man-clinical, cytogenetic, and biochemical investigations. AJMG 12:219-225, 1982. [PubMed: 7048927]
    Patient K. M. was 26 years old with moderately severe mental retardation, seizures, and a behavior disorder. Parents had normal chromosomes.
    46,XY,r(17)(p13q25).
    Aberration: Ring chromosome
    Index Terms: Seizures
    Negative band
  • Fagan K, Edwards M.: Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization. AJMG 69:352-355, 1997. [PubMed: 9098481]
    At birth:blood-mos47,XX,+r(17)(?p13q21.3)de novo/46,XX(60%).,At 5 years of age:blood-46,XX (60 cells examined).
    The patient has MCA with severe developmental delay.
    Aberration: Ring chromosome
  • Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carre-Pigeon F, Rumpler Y: "Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21)." Cytogenet. Cell Genet. 43:154-160, 1986. [PubMed: 3802918]
    46,XY,t(17;21)(p13;q11).
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male
    Negative band
  • Havlovicova M, Novotna D, Kocarek K, Novotna K, Bendova S, Petrak B, Hrdlicka M, Sedlacek Z.: A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. AJMG Part A: 143A: 76-81, 2007. [PubMed: 17163520]
    46,XX,r(17)(p13;q25)dn[83]/45,XX,-17[12]/47,XX,r(17),+r(17)[1]/46,XX,-17,+mar1[2]/46,XX,-17,+mar2[1]/46,XX,-17,+mar3[1].ish r(17)(D17S2199-,LIS1+,TP53+,FL1+,D17Z1+,D17S2200-).
    The 9 1/2 year old girl displayed mild dysmorphic features, short stature, scoliosis and skin pigmentary changes.
    The deleted material on 17p was 0.6-2.5 Mb, and up to about 10 Mb on 17q.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 17p-;17q-
    Index Terms: NF1
  • Kubien E, Kleczkowska A: Familial occurrence of chromosome variant 17ph+. Clin. Genet. 12:39-42, 1977. [PubMed: 891007]
    46,XX,17ph+.&46,XY,der(17ph+)mat.
    Aberration: Marker chromosome
    Negative band
  • Macintyre M N, Walden D B, Hempel J M: Tertiary trisomy in a human kindred containing an E/G translocation. AJHG 23:431-441, 1971. [PMC free article: PMC1706767] [PubMed: 5092595]
    46,XX and XY,der(17)der(22)t(17;22)(p13;q11)mat.
    46,XX,t(17;22)(p13;q11).&"46,XX,t(17;22)(17qter -> 17p13::22q11 -> 22qter;22pter -> 22q11::17p13 -> 17pter)."
    Proband DP (260665) in this report.
    47,XX,+der(22)t(17;22)(p13;q11)mat.&An additional pregnancy with the following karyotype was terminated:&"45,XY,-17,-22,+der(17)t(17;22)(p13;q11)."
    Aberration: Simple translocation
    Negative band
  • Malkin D, Li F P, Strong L C, Fraumeni J F, Jr, Nelson C E, Kim D H, Kassel J, Gryka M A, Bischoff F Z, Tainsky M A, Friend S H: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and onther neoplasms. Science 250:1233-1238, 1990. [PubMed: 1978757]
    The codon 248 mutation changes an arginine to tryptophan occurs within conserved region IV.
    Negative band
  • Mann J, Wcislo K, Golbus M S, 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. 1321.
    46,XX,inv(17)(p13q11)mat.
    Aberration: Inversion pericentric
    Negative band
  • Martens U M, Zijlmans J M J M, Poon S S S, Dragowska W, Yui J, Chavez E A, Ward R K, Lansdorp P M.: Short telomeres on human chromosome 17p. Nature Genet. 18:76-80, 1998. [PubMed: 9425906]
    16 individuals were studied.
    Telomeres on 17p were found to be shorter ie T2AG3 repeats. The authors raise the possibility that this may contribute the frequent loss of 17p alleles in human cancers.
    Aberration: Marker chromosome
    Index Terms: Telomere, short
  • Menon A G, Anderson K M, Riccardi V M, Chung R Y, Whaley J M, Yandell D W, Farmer G E, Freiman R N, Lee J K, Li F P, Barker D F, Ledbetter D H, Kleider A, Martuza R L, Gusella J F, Seizinger B R: Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. PNAS 87:5435-5439, 1990. [PMC free article: PMC54339] [PubMed: 2142531]
    Aberration: Interstitial deletion
    MIM#: 162200
    Negative band
  • Oliver N, Francke U, Taylor K M: Silver staining studies on the short arm variant of human chromosome 17. Hum. Genet. 42:79-82, 1978. [PubMed: 77246]
    17p variant region does not show silver grain precipitation indicating that it is a structural heteromorphism.
    Aberration: Marker chromosome
    Negative band
  • Ono K, Suzuki Y, Fujii I, Takeshita K, Arima M, Nakagome Y: A case of ring chromosome E17:46,XX,r(17)(p13 to q25). Jpn. J. Hum. Genet. 19:235-242, 1974. [PubMed: 4478010]
    Case T.H. (251062) in this report.
    46,XX,r(17)(p13q25).
    Aberration: Ring chromosome
    Negative band
  • Priest J H, 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. 1322.
    46,XX,inv(17)(p13q12)pat.
    Aberration: Inversion pericentric
    Negative band
  • Schwartz C E, Johnson J P, Holycross B, Mandeville T M, Sears T S, Graul E A, Carey J C, Schroer R J, Phelan M C, Szollar J, Flannery D B, Stevenson R E: Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. AJHG 43:597-604, 1988. [PMC free article: PMC1715525] [PubMed: 2903661]
    Patients D.H., N.B., H.D., A.W., and D.L. were studied.
    46,XY,del(17)(p13).&"46,XX,-13,+der(13),t(13;17)(p11;p13)mat."
    The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive craniofacial features, growth impairment, and profound developmental failure.
    Aberration: Interstitial deletion
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Selypes A, Laszlo A: Miller-Dieker syndrome and monosomy 17p13: a new case. Hum. Genet. 80:103-104, 1988. [PubMed: 3417298]
    Patient J.Z., 200675.
    46,XY,del(17)(qter -> p13:).
    Patient was 10 years old with multiple congenital anomalies. Parental karyotypes were normal.
    Aberration: Terminal deletion
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Miller-Dieker syndrome
    Negative band
  • Shashi V, White J R, Pettenati M J, Root S K, Bell W L.: Ring chromosome 17: phenotype variation by deletion size. Clin. Genet. 64:361-365, 2003. [PubMed: 12974742]
    Case 1=46,XY,r(17)(p13q25)/47,XY,r(17)(p13q25)+r(17)(p13q25)[1].,Case 2=46,XY,r(17)(p13q25).
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 17p-;17q-
  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    Subrt I, Stirska K: "Familial translocation t(17;22), including the segregation in five consecutive abortuses." Hum. Genet. 80:195-196, 1988. [PubMed: 3169746]
    46,XX and XY, der(17)der(22)t(17;22)(pter;q11)mat and pat.&"47,XY,-17,+der(17),+der(22)t(17;22)(pter;q11)mat."&"47,XX,-17,+der(17)t(17;22)(pter;q11)mat."
    46,XX or XY,t(17;22)(p13;q11).&"46,XY,-17,+der(17),t(17;22)."&"47,XY,+der(22),t(17;22)."&"47,XX,-22,+der(17),+der(22),t(17;22)."
    Case 9.
    46,XX,t(17;22)(pter;q11).
    Aberration: Reciprocal translocation
    Negative band
  • Teyssier M, Charrin C, Corgiolu Theuil G, David L: Ring chromosome 17. Case report and review of the literature. Ann. Genet. 35:75-78, 1992. [PubMed: 1381884]
    Patient Aurelie was born on November 6, 1981.
    46,XX,r(17)(p13q25)de novo.
    There was growth failure, mental retardation and abnormal palmar crease but no Miller-Dieker syndrome.
    Aberration: Ring chromosome
    Negative band
  • Tolkendorf E, Mehner G, Prager B: Partial trisomy 22q12 to qter in prenatal diagnosis. Prenat. Diag. 11:339-342, 1991. [PubMed: 1896421]
    46,XX,t(17;22)(p13;q12).&"46,XY,-17,+der(17)t(17;22)(17qter -> 17p13::22q12 -> 22qter)mat."
    The fetus showed small cystic hygroma, micrognthia, vsd, and a struma connata.
    Aberration: Reciprocal translocation
    Index Terms: Struma connata,Ventricular septal defect (VSD)
    Negative 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(17;20)(p13;q11.2).
    Aberration: Reciprocal translocation
    Negative band
  • Yokoyama Y, Narahara K, Teraoka M, Koyama K, Seino Y, Yagi S, Konishi T, Miyawaki T.: Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome. AJMG 71:236-237, 1997. [PubMed: 9217231]
    A three generation family with MDS and inversion carriers is reported.
    46,XX and XY,inv(17)(p13.1q25.1 or p13.3q25.3).,Patient:46,XY,rec(17)dup(17q)inv(17)pat.
    The 4 month old patient was being evaluated for MCA and a strong family history.
    Signal with probe D17S379 showed only on one chromosome 17 in the patient.
    Aberration: Inversion pericentric
    MIM#: 247200
    Index Terms: Miller-Dieker syndrome familial
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106731
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