Literature DB >> 853318

Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.

J Simpson, H Zellweger.   

Abstract

A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.

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Year:  1977        PMID： 853318      PMCID： PMC1013527          DOI： 10.1136/jmg.14.2.124

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


  14 in total

1.  An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

Authors:  M M Cohen; A Ornoy; A Rosenmann; G Kohn
Journal:  Ann Genet       Date:  1975-06

2.  Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

Authors:  H ZELLWEGER; K MIKAMO; G ABBO
Journal:  Helv Paediatr Acta       Date:  1962

3.  [T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter].

Authors:  C Laurent; B Dutrillaux; M C Biemont; J Genoud; M Bethenod
Journal:  Ann Genet       Date:  1973-12

4.  Tertiary partial 14 trisomy 47, XX, plus 14q minus.

Authors:  J P Fryns; J J Cassiman; H Van den Berghe
Journal:  Humangenetik       Date:  1974

5.  Pachytene analysis in a human reciprocal (10;11) translocation.

Authors:  M A Ferguson-Smith; B M Page
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

6.  Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).

Authors:  R A Pfeiffer; K Büttinghaus; H Struck
Journal:  Humangenetik       Date:  1973

7.  Partial trisomy 14q-- and pseudoxanthoma elasticum.

Authors:  S Muldal; B A Enoch; A Ahmed; R Harris
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

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.  Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).

Authors:  J A Reiss; H E Wyandt; R E Magenis; E W Lovrien; F Hecht
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

10.  A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Authors:  E M Short; G B Solitare; W R Breg
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318
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  11 in total

1.  Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies.

Authors:  M Frecker; L Dallaire; S R Young; G C Chen; N E Simpson
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

2.  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

3.  Familial partial 14 trisomy.

Authors:  J Q Miller; K Willson; H Wyandt; M A Jaramillo; T S McConnell
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

Review 4.  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 5.  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

6.  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

7.  A severely retarded 18-year-old boy with tertiary partial trisomy 14.

Authors:  A Smith; G den Dulk; G Elliott
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

8.  Cytogenetic studies of familial Prader-Willi syndrome.

Authors:  T Hasegawa; M Hara; M Ando; M Osawa; Y Fukuyama; M Takahashi; K Yamada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  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

10.  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
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