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UNIPARENTAL DISOMY [4 records]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2013-11-06

English

Subject field(s)
  • Genetics
CONT

[In uniparental disomy, ] both homologous chromosomes are inherited from only one of the parents in a diploid. If these two chromosomes are identical, the case is called isodisomy...

French

Domaine(s)
  • Génétique
DEF

Présence, dans une cellule diploïde, de deux chromosomes homologues, identiques, hérités de l'un des deux parents seulement.

OBS

isodisomie : terme et définition publiés au Journal officiel de la République française le 18 septembre 2011.

Spanish

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Record 2 2013-11-06

English

Subject field(s)
  • Genetics
CONT

[In uniparental disomy, ] both homologous chromosomes are inherited from only one of the parents in a diploid. If these two chromosomes are identical, the case is called isodisomy... if they are different : heterodisomy.

French

Domaine(s)
  • Génétique
DEF

Présence, dans une cellule diploïde, de deux chromosomes homologues, non identiques, hérités de l'un des deux parents seulement.

OBS

hétérodisomie : terme et définition publiés au Journal officiel de la République française le 18 septembre 2011.

Spanish

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Record 3 2013-10-30

English

Subject field(s)
  • Genetics
  • Cytology
  • Molecular Biology
DEF

The [abnormal] presence in a cell of a pair of chromosomes [where] both chromosomes are inherited from the same parent ...

French

Domaine(s)
  • Génétique
  • Cytologie
  • Biologie moléculaire
DEF

Présence, dans une cellule ou un organisme diploïde, d'une paire de chromosomes provenant d'un seul parent.

OBS

Selon l'origine parentale, la disomie est dite paternelle ou maternelle.

OBS

disomie uniparentale; DUP : terme, abréviation et définition publiés au Journal officiel de la République française le 15 septembre 2013.

Spanish

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Record 4 1998-12-02

English

Subject field(s)
  • Genetics
CONT

The detection of non-Mendelian inheritance in man. How to detect and interpret variation in gene structure or expression that does not or might not follow a Mendelian mode of inheritance : mitochondrial mutations(particularly when heteroplasmic) ;uniparental disomy(full or regional, heterodisomy, homodisomy, isodisomy, pseudodisomy) ;unstable DNA(including triplet repeat regions) ;imprinting; X chromosome inactivation mutations or effects; positional effects; cis-trans effects, singleton birth after regression of an MZ twin, chimerism, parthenogenesis, aneuploid reproduction and recombination, RNA editing, etc.

French

Domaine(s)
  • Génétique
CONT

Chez un enfant né d'un ovule hétéroplasmique, certains tissus sont enrichis en ADN mitochondrial normal, tandis que d'autres sont enrichis en ADN muté.

Spanish

Save record 4

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