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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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  • Angelova E, Mitreva B, Toncheva D: Ring chromosome 14 without deletion. Acta Paed. Hung. 28:59-62, 1987. [PubMed: 3620197]
    Patient P. H. B. was 14 months old, and had multiple congenital anomalies consistent with other findings.
    Parental karyotypes were normal.
    Aberration: Ring chromosome
    Variable band
  • Same entry as in 04p140,06q200 (Daniel et al, 1982).
  • Faed M J W, Robertson J, Field M A S, Mellon J P: A chromosome survey of a hospital for the mentally subnormal. Clin. Genet. 16:191-204, 1979. [PubMed: 158447]
    Case 10 in this report.
    Aberration: Robertsonian translocations
    Variable band
  • Gilgenkrantz S, Vigneron J, Peter M O, Dufier J L, Teboul M, Cgery M, Keyeux G, Lefranc M P: Distal trisomy 14q. I. Clinical and cytogenetical studies. Hum. Genet. 85:612-616, 1990. [PubMed: 2227953]
    Keyeux G, Gilgenkrantz S, Lefranc G, Lefranc M P: Distal trisomy 14q. II. Molecular study of the 14q32 locus in two cases of chromosome 14 rearrangements with partial duplication. Hum. Genet. 85:617-622, 1990. [PubMed: 1977685]
    Case 1: D.V.
    Aberration: Simple translocation
    Variable band
  • Howard P J, Clark D, Dearlove J: Retinal/macular pigmentation in conjunction with ring 14 chromosome. Hum. Genet. 80:140-142, 1988. [PubMed: 3169736]
    Patient H.R.
    Aberration: Ring chromosome
    Index Terms: Retina,Macular
    Variable band
  • Ieshima A, Takeshita K, Yamamoto K: Ring 14 syndrome with decreased bone mineral content in two pubertal girls. Jpn. J. Hum. Genet. 28:35-43, 1983. [PubMed: 6876481]
    Aberration: Ring chromosome
    Variable band
  • Riley S B, Buckton K E, Ratcliffe S G, Syme J: Inheritance of a ring 14 chromosome. J. Med. Genet. 18:209-213, 1981. [PMC free article: PMC1048707] [PubMed: 7241544]
    46,XX,der r(14)(p13q32)mat.,A mother (case II-2), two offsprings (cases III-2 and III-3), and a therapeutically aborted fetus (III-5) each had a ring 14 chromosome. Father and mother of case II-2 were 29 and 26 years old, respectively, and had normal karyotypes.
    Aberration: Ring chromosome
    Variable band
  • Santos Guilherme R, de Freitas Ayres Meloni V, Palmer Sodre C, Christofolini D M, Pellegrino R, de Mello C B, Conlin L K, Hutchinson A L, Spinner N B, Brunoni D, Domenici Kulikowski L, Melaragno M I.: Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. AJMG Part A: 152A: 2865-2869, 2010. [PubMed: 20979193]
    The 23 year old had subtle facial anomalies, IQ of 69.
    Aberration: Ring chromosome
    Index Terms: 20-year follow-up
  • 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 diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case No. LS1:
    46,XY,add(14)(p13) by GTG.,46,XY,der(14)t(5;14).
    The patient showed developmental delay.
    Aberration: Simple translocation
    Index Terms: SKY
  • Shirasaka Y, Ito M, Okuno T, Fujii T, Nozaki K, Mikawa H.: Ring 14 chromosome with complex partial seizures: a case report. Brain Develop. 14:257-260, 1992. [PubMed: 1443409]
    The 2 year 7 month old patient had retarded development and CT scan displayed a low density area anterior to the left temporal lobe, and she suffered from complex partial seizures.
    Aberration: Ring chromosome
    Index Terms: Seizures complex partial
  • Turleau C, de Grouchy J: Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12:361-371, 1977. [PubMed: 589857]
    Patient 2 (Observation No. 5015) in this report.
    Aberration: Simple translocation
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105954
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