Literature DB >> 8014980

Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.

M Krajinovic1, K Ivanovic, L Mestroni, V Diklic, J Nikolis.   

Abstract

We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is discussed.

Entities:  

Mesh：

Year:  1994        PMID： 8014980      PMCID： PMC1049756          DOI： 10.1136/jmg.31.3.255

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


  8 in total

1.  Molecular studies of parental origin and mosaicism in 45,X conceptuses.

Authors:  T Hassold; D Pettay; A Robinson; I Uchida
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Authors:  K R Held; S Kerber; E Kaminsky; S Singh; P Goetz; E Seemanova; H W Goedde
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

Authors:  C A Feener; F M Boyce; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

4.  XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation.

Authors:  J Navarro; F Vidal; J Benet; C Templado; S Marina; J Egozcue
Journal:  Hum Reprod       Date:  1991-03       Impact factor: 6.918

5.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

6.  A case of 44,X streak gonad syndrome combined with familial balanced 13/14 translocation.

Authors:  J László; P Bösze; M Gaál; A Tóth
Journal:  Acta Med Hung       Date:  1984

7.  The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.

Authors:  E B Hook; D Warburton
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  A patient with 44 chromosomes.

Authors:  F Salamanca; L Buentello; J Sanchez; S Armendares
Journal:  Ann Genet       Date:  1985
  8 in total
  2 in total

1.  Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1).

Authors:  Z Cetin; I Mendilcioglu; S Yakut; S Berker-Karauzum; B Karaman; G Luleci
Journal:  Balkan J Med Genet       Date:  2011-06       Impact factor: 0.519

2.  The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.

Authors:  Seyedetahere Mousavi; Batool Amiri; Saidee Beigi; Mohammadreza Farzaneh
Journal:  J Med Case Rep       Date:  2021-02-18
  2 in total

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