Literature DB >> 4209591

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

P D Pallister, K Patau, S L Inhorn, J M Opitz.   

Abstract

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Year:  1974        PMID： 4209591     DOI： 10.1111/j.1399-0004.1974.tb01681.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

Authors:  A M Vianna-Morgante; H G Nunesmaia
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

2.  A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors:  J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

3.  Fusion of two apparently intact human X chromosomes.

Authors:  A K Sinha; S Pathak; J J Nora
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

4.  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

5.  Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.

Authors:  R L Summitt; A T Tharapel; R S Wilroy
Journal:  Eur J Pediatr       Date:  1977-07-01       Impact factor: 3.183

6.  Dicentric chromosomes and the inactivation of the centromere.

Authors:  E Therman; C Trunca; E M Kuhn; G E Sarto
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

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

Authors:  A Daniel; I D Perel; A J Clarke; T Saville
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

8.  Single Cd band in dicentric translocations with one suppressed centromere.

Authors:  A Daniel
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

9.  18Q - syndrome resulting from a tdic(14p; 18q).

Authors:  J C Lambert; M Ferrari; C Bergondi; A Galliana; N Ayraud
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

10.  Human telomeric 6; 19 translocation chromosome with a tendency to break at the fusion point.

Authors:  M E Drets; E Therman
Journal:  Chromosoma       Date:  1983       Impact factor: 4.316
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