Síndrome de Turner: mosaicismo 45, X/46, XX y sus implicaciones clínicas / Turner's Syndrome: mosaicism 45, X / 46, XX and its clinical implications
Prog. obstet. ginecol. (Ed. impr.)
; 60(5): 485-488, sept.-oct. 2017.
Article
in Spanish
| IBECS
| ID: ibc-167337
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
El objetivo de este manuscrito es conocer cuál sería la actitud a seguir frente a un mosaico para monosomía X y sus repercusiones clínicas a partir de un caso de mosaicismo residual diagnosticado en nuestro centro. El síndrome de Turner o monosomía X es la aneuploidía más prevalente de los cromosomas sexuales, presenta gran variedad fenotípica condicionada por múltiples genotipos, entre los que destaca el mosaicismo, presente en hasta la mitad de los casos. Un correcto diagnóstico genético es fundamental para un adecuado consejo clínico y para optimizar el manejo de cada caso ya que las repercusiones clínicas y su evolución son muy variables (AU)
ABSTRACT
The aim of this article is to know what should be the attitude we should continue with a mosaic monosomy X and its clinical consequences on the basis of a case diagnosed in our hospital. Turner syndrome or monosomy X is the most common sexual chromosomes' aneuploidy, can make a lot of phenotypic variations conditioned by multiple genotypes that may occur, especially mosaicism, present in up to half of cases. Appropriate genetic diagnosis is essential for proper and appropriate genetic counseling to optimize the management of each case, as the clinical implications and evolution are highly variable (AU)
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Turner Syndrome
/
46, XX Disorders of Sex Development
/
Amniocentesis
/
Mosaicism
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Spanish
Journal:
Prog. obstet. ginecol. (Ed. impr.)
Year:
2017
Document type:
Article
Institution/Affiliation country:
Parc de Salut Mar/España