Literature DB >> 469889

Familial partial 14 trisomy.

J Q Miller, K Willson, H Wyandt, M A Jaramillo, T S McConnell.   

Abstract

Four children in the same family have 47, +der (14), t(9;14) (p24;q21). Their mothers are sisters with 46,XX,t(9;14) (p24;q21). Clinical features of the children are similar to those of others reported to have partial 14 trisomy.

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Year:  1979        PMID： 469889      PMCID： PMC1012783          DOI： 10.1136/jmg.16.1.60

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


  18 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  [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

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

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

4.  An analysis of the break points of structural rearrangements in man.

Authors:  P A Jacobs; K E Buckton; C Cunningham; M Newton
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

5.  Specific cytological recognition of the heterochromatic segment of number 9 chromosome in man.

Authors:  R Gagné; C Laberge
Journal:  Exp Cell Res       Date:  1972-07       Impact factor: 3.905

6.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

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

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

8.  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

9.  A suggestion for the nomenclature of the fluorescent banding patterns in human metaphase chromosomes.

Authors:  C C Lin; I A Uchida; E Byrnes
Journal:  Can J Genet Cytol       Date:  1971-06

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

Authors:  J Simpson; H Zellweger
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
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  5 in total

Review 1.  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

2.  Familial partial 14 trisomy.

Authors:  K Willson; J Q Miller; W Wilson; G Schott
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

3.  Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Authors:  M B Jenkins; R Kriel; L Boyd
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

4.  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

5.  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
  5 in total

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