Literature DB >> 1002146

Trisomy 4p due to a paternal t(4p-;16p+) translocation.

T Bauknecht, F Betteken, W Vogel.   

Abstract

A patient is described carrying a duplication 4p12 leads to pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.

Entities:  

Mesh：

Year:  1976        PMID： 1002146     DOI： 10.1007/BF00278894

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


  6 in total

1.  [Trisomy 4p. Three new observations (author's transl)].

Authors:  F Giraud; J F Mattei; M G Mattei; S Ayme; R Bernard
Journal:  Humangenetik       Date:  1975-11-06

2.  A family with an inherited translocation involving the no. 4/no. 21 chromosomes.

Authors:  J M Darmady; M Seabright
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

3.  Localization of heterochromatin in human chromosomes.

Authors:  F E Arrighi; T C Hsu
Journal:  Cytogenetics       Date:  1971

4.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

5.  Differences in DNA composition along mammalian metaphase chromosomes.

Authors:  A De la Chapelle; J Schröder; R K Selander; K Stenstrand
Journal:  Chromosoma       Date:  1973-07-18       Impact factor: 4.316

6.  Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.

Authors:  H Schröchsnadel; C Feichtinger; C Scheminzky
Journal:  Humangenetik       Date:  1975-10-07
  6 in total
  5 in total

Review 1.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors:  A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

4.  Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?

Authors:  J P Fryns; J Bande-Knops; H Van Den Berghe
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

Review 5.  Clinical manifestations of trisomy 4p syndrome.

Authors:  S V Patel; H Dagnew; A J Parekh; E Koenig; R A Conte; M J Macera; R S Verma
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183
  5 in total

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