Mosaicism and uniparental disomy in prenatal diagnosis.
Trends Mol Med
; 21(2): 77-87, 2015 Feb.
Article
en En
| MEDLINE
| ID: mdl-25547535
ABSTRACT
Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Complicaciones del Embarazo
/
Disomía Uniparental
/
Mosaicismo
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Trends Mol Med
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2015
Tipo del documento:
Article