Literature DB >> 468247

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

G Kovacs, C Mihai.   

Abstract

Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.

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Mesh：

Year:  1979        PMID： 468247     DOI： 10.1007/bf00277639

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


  22 in total

1.  [Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].

Authors:  O Raoul; M O Rethoré; B Dutriliaux; L Michon; J Lejeune
Journal:  Ann Genet       Date:  1975-03

2.  Tertiary trisomy 14: is there a syndrome?

Authors:  S D Pena; M Ray; P J McAlpine; C Ducasse; J Briggs; J L Hamerton
Journal:  Birth Defects Orig Artic Ser       Date:  1976

3.  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

4.  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

5.  [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

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

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

7.  Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors:  T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

8.  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

9.  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

10.  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
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  2 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.  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
  2 in total

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