Literature DB >> 4426632

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

J P Fryns, J J Cassiman, H Van den Berghe.   

Abstract

Mesh：

Year:  1974        PMID： 4426632     DOI： 10.1007/BF00281111

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  21 in total

1.  CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors:  G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal:  Lancet       Date:  1965-08-07       Impact factor: 79.321

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.  Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.

Authors:  W R Breg
Journal:  Stain Technol       Date:  1972-03

5.  A newborn with the cat-eye syndrome.

Authors:  J P Fryns; E Eggermont; H Veresen; H Van den Berghe
Journal:  Humangenetik       Date:  1972

6.  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

7.  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

8.  Tertiary trisomy in a human kindred containing an E/G translocation.

Authors:  M N Macintyre; D B Walden; J M Hempel
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

9.  Additional small acrocentric chromosome: two cases.

Authors:  J Nielsen; T Tsuboi; U Friedrich; M Mikkelsen; B Lund; O Steinicke
Journal:  J Ment Defic Res       Date:  1969-06

10.  Familial transmission of a translocation between two non-homologous large acrocentric chromosomes. Clinical, cytogenetic and autoradiographic studies.

Authors:  P Jacobsen; M Mikkelsen; A Froland; A Dupont
Journal:  Ann Hum Genet       Date:  1966-05       Impact factor: 1.670
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  12 in total

1.  The syndrome of partial trisomy 14q.

Authors:  F Lo Curto; P Maraschio; P Milanesi; F Severi; A C Ugazio; O Zuffardi
Journal:  Eur J Pediatr       Date:  1976-11-03       Impact factor: 3.183

2.  Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors:  J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

3.  46,XX/47XX, + 14 mosaicism in a liveborn infant.

Authors:  A O Martin; M M Ford; N T Khalil; K B Turk; M N Macintyre
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

4.  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

5.  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 6.  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

7.  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

8.  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

9.  Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Authors:  S R Young; D M Donovan; H A Greer; K Burch; D C Potter
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

10.  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
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