Literature DB >> 527978

Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).

A Bonfante, M Stella, G Rossi.   

Abstract

Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.

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Year:  1979        PMID: 527978     DOI: 10.1007/BF00284601

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  18 in total

1.  [Phenotypic variation in partial trisomy 4q (author's transl)].

Authors:  W Vogel; J W Siebers; J Gunkel
Journal:  Humangenetik       Date:  1975-06-19

2.  Partial 4q trisomy. Apropos of 3 cases.

Authors:  B Dutrillaux; C Laurent; A Forabosco; B Noel; E Suerinc; M C Biemont; J B Cotton
Journal:  Ann Genet       Date:  1975-03

3.  Partial trisomy 4q due to familial 2/4 translocation.

Authors:  B Biederman; P Bowen
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

4.  Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Authors:  M Stella; A Bonfante; G Ronconi; G Rossi
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

5.  Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

Authors:  A De la Chapelle; M Koivisto; J Schröder
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

6.  Partial trisomy 4 resulting from a 4-18 reciprocal translocation.

Authors:  R B Surana; P E Conen
Journal:  Ann Genet       Date:  1972-09

7.  [Partial B trisomy in cat-cry-syndrome (author's transl)].

Authors:  A Schwingshackl; E Ganner
Journal:  Padiatr Padol       Date:  1973

8.  Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

9.  Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

Authors:  R S Sparkes; U Francke; H Muller; K Toomey
Journal:  Ann Genet       Date:  1977-03

10.  Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.

Authors:  C Baccichetti; R Tenconi; F Anglani; F Zacchello
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

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  4 in total

1.  Trisomy 4q: 46, xy,-11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies.

Authors:  S A al-Awadi; K K Naguib; S A al-Othman; T S Sundareshan
Journal:  Indian J Pediatr       Date:  1988 Mar-Apr       Impact factor: 1.967

2.  Nondisjunction of a translocation-chromosome t(4;13).

Authors:  M Westmeier; P Kaiser; W Hellwig-Beato; E D Steuber; G Körver; I Ribhegge
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  Endocrine abnormalities in a patient with partial trisomy 4q.

Authors:  M A Angulo; M Castro-Magana; J Sherman; P J Collipp; J Milson; C Trunca; A N Derenoncourt
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

Review 4.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096

  4 in total

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