Literature DB >> 469891

Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.

A Daniel, I D Perel, A J Clarke, T Saville.   

Abstract

A dicentric translocation is described involving chromosomes 13 and 18 in which the centromere of chromosome 13 was suppressed. The translocation was ascertained by repeated miscarriages and was found in three generations of phenotypically normal carriers.

Mesh：

Year:  1979        PMID： 469891      PMCID： PMC1012786          DOI： 10.1136/jmg.16.1.73

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Structure and inheritance of some heterozygous Robertsonian translocation in man.

Authors:  A Daniel; P R Lam-Po-Tang
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

2.  A stable human dicentric chromosome, t dic (12;14)(p13;p13) including an intercalary satellite region between centromeres.

Authors:  D Warburton; A S Henderson; L R Shapiro; L Y Hsu
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

3.  A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.

Authors:  E Niebuhr
Journal:  Cytogenetics       Date:  1972

4.  Dicentric chromosome due to an unusual fusion.

Authors:  I Subrt; B Blehová; O Táborský
Journal:  Humangenetik       Date:  1971

5.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

6.  A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t(6;19).

Authors:  P D Pallister; K Patau; S L Inhorn; J M Opitz
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

7.  Stable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl.

Authors:  S H Roberts; R T Howell; K M Laurence; M E Heathcote
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

8.  Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].

Authors:  Y Nakagome; F Teramura; K Katoaka; F Hosono
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
  8 in total
  1 in total

1.  Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.

Authors:  Zafer Cetin; Mesut Parlak; Ozden Altiok Clark; Gungor Karaguzel; Guven Luleci; Iffet Bircan; Sibel Berker-Karauzum
Journal:  Eur J Pediatr       Date:  2013-05-08       Impact factor: 3.183
  1 in total

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