Literature DB >> 302672

Partial trisomy 14q and familial translocation (2;14) (q12;q13).

R Coco, V B Penchaszadeh.   

Abstract

A female patient with moderate psychomotor retardation, minor anomalies and proximal trisomy 14q due to segregation of a maternal translocation is reported.

Entities:  

Mesh：

Year:  1977        PMID： 302672

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  7 in total

1.  Tertiary trisomy 14q--, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22).

Authors:  G Kovacs; C Mihai
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

Review 2.  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

Review 3.  Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Authors:  G Valkova; M Stefanova
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

4.  Partial trisomy 14q.

Authors:  I Lopez Pajares; A Delicado; P V Cobos; G Lledo; A Peralta
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

5.  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

6.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Authors:  J B Wu; J Sha; J F Zhai; Y Liu; B Zhang
Journal:  Mol Cytogenet       Date:  2020-02-06       Impact factor: 2.009
  7 in total

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