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

05p120

5p12
  • Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. AJMG 99:223-233, 2001. [PubMed: 11241494]
    Case G:
    The ring was present in 46% of amniocytes, 62% in lymphocytes and 50% of fibroblasts.,r(5)(p10p12)de novo.
    The patient had dysmorphic features at autopsy.
    Aberration: Ring chromosome
    No band
  • 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. 3085 in this report.
    46,XY,t(5;10)(p12;p152).&"46,XY,t(5;10)(5pter -> 5p12::10p152 -> 10qter;10pter -> 10p152::5p12 -> 5qter)."&"46,XY,der(5)t(5;10)(p12;p152)pat."
    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(5;10)(p12;p15); t(5;11)(p12;q23); t(5;14)(p12;p11); t(5;15)(p12;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Crandall B, 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. 636
    46,XX,t(5;20)(p12;p11)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 1275 in this report.
    46,XY,der(9),t(5;9)(p12;p13)pat.
    Aberration: Reciprocal translocation
    Positive band
  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(5;19)(p12;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Goumy C, Bonnet-Dupeyron M-N, Cherasse Y, Laurichesse H, Jaffray J-Y, Lacroute G, Geneix A, Lemery D, Vago P.: Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat. Diag. 24:249-256, 2004. [PubMed: 15065097]
    Case No. 30=46,XX,der(5)t(5;10)(p12;p12)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-;10p+
  • Jackson J F, 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. 621.
    46,XY,-18,+der(18),t(5;18)(p12;p11)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Leichtman L G, Werner A, Bass W T, Smith D, Brothman A R: Apparent Opitz BBBG syndrome with a partial duplication of 5p. AJMG 40:173-176, 1991. [PubMed: 1897571]
    Patient AB.
    46,X,var(Y),inv dup(5)(p12 -> p15.3::p15.3 -> qter)de novo.
    Patient was evaluated for MCA.
    Aberration: Inverted insertions within a chromosome
    MIM#: 145410
    Chromosomal Aneuploidy: 5p+
    Positive band
  • Niebuhr E: A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics 11:165-177, 1972. [PubMed: 5038360]
    Wandall A: Kinetochore development in two dicentric chromosomes in man. A light and electron microscopic study. Hum. Genet. 82:137-141, 1989. [PubMed: 2656502]
    Wandall A.: Clonal origin of partially inactivated centromeres in a stable dicentric chromosome. Cytogenet. Cell Genet. 69:193-195, 1995. [PubMed: 7698010]
    45,XX,-5,-13,+tdic(5;13)(p12;p12),mar16.
    Kinetochore development was at only one centromere.
    Aberration: Dicentric chromosome
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Positive band
  • Perfumo C, Mainardi P C, Cal+¼ A, Coucourde G, Zara F, Cavani S, Overhauser J, Bricarelli F D, Pierluigi M.: The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J. Med. Genet. 37:967-972, 2000. [PMC free article: PMC1734487] [PubMed: 11186943]
    Patient 1:
    46,XX,ish del(5)(:p14.1->qter)(D5S711-)[73]/46,XX,ish dup(5),(:p12->p15.2::p15.2->qter)(D5S802++,D5S778++,D5S751-)[27].
    Aberration: TD,DU
    Chromosomal Aneuploidy: 5p-;5p+
    No band
  • Schonberg S, 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. 632
    46,XX,t(5;19)(p12;q13)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]
    Case D=46,XY,t(5;19)(p12;p12).
    No pregnancy.
    Aberration: Reciprocal translocation
    Index Terms: PGD
  • Stetka D G, 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 Nos. 548 and 549.
    46,XY,t(5;9)(p12;p24).
    Aberration: Reciprocal translocation
    Positive band
  • Telvi L, Folhen M, Raoul O, Feingold J, Ponsot G, Pompidou A, Rethore M O, Lejeune J: "Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)." AJMG 42:716-719, 1992. [PubMed: 1632445]
    Propositus C.M., 91288.
    46,XY,t(3;4)(p12;p15.1)mat,-10,+der(10)t(5;10)(p12;p13)pat.
    The male infant had epilepsy and static antenatal encephalopathy.
    Aberration: Reciprocal translocation
    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,XY,t(5;14)(p12;q22).
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105571
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • 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...